Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5314
Gene name Gene Name - the full gene name approved by the HGNC.	PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PKHD1
Synonyms (NCBI Gene) Gene synonyms aliases	ARPKD, FCYT, FPC, PCYT, PKD4, TIGM1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p12.3-p12.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different

Show/Hide all(405)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937907	G>A	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34796823	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs35403035	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant
rs45517932	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs137852944	G>A	Likely-pathogenic, protective, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs137852945	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs137852946	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs137852947	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852949	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs137925439	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138350291	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs138388301	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138672830	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs138968608	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138989655	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140674740	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141103838	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs141177165	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant
rs141360909	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs141622697	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142107837	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs142526715	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs142922408	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs143616240	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained
rs143737660	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs144025892	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs144106341	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs144193508	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained
rs145651593	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs145815264	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs145886657	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs145960781	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146083613	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs146468152	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs146519878	A>G	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs146531432	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146649803	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs146789444	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs147051900	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs147222255	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs147584295	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147851214	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs147915980	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs148356158	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs148497044	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148790132	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs148817026	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148932323	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant
rs149111536	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs149310653	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, non coding transcript variant
rs149427926	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs149522482	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs149781976	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs149798764	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs180675584	C>T	Pathogenic, pathogenic-likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs181208607	G>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs183674012	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs184441390	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant
rs186227053	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs187667255	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs190396031	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs199531851	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs199559837	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs199564783	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs199568593	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs199621305	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200179145	A>G,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200204857	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs200391019	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs200432861	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200511208	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs200511261	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200679577	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200707468	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs200807210	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200864129	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs201105958	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs201432731	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs201670044	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs201812542	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs267601070	G>A,C	Pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs367564272	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs367608402	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs367707903	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, missense variant
rs368093611	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs368263958	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs368339881	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369292828	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs369925690	T>C,G	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs370277502	G>A,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs371508721	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs371510537	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373409786	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs374650666	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, upstream transcript variant
rs375603741	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs376040501	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs376658460	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs376709130	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, upstream transcript variant, intron variant
rs376987651	T>C	Pathogenic	Genic upstream transcript variant, initiator codon variant, non coding transcript variant, missense variant
rs398124475	A>C,G	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs398124476	C>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs398124477	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant, 5 prime UTR variant
rs398124478	G>A,C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs398124479	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs398124480	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs398124481	TC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124483	C>-	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124484	GG>C	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124485	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs398124486	C>GGGGAATA	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs398124487	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs398124491	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs398124492	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124495	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs398124496	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs398124498	C>A	Pathogenic-likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs398124500	G>A	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs398124501	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124502	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs398124503	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs535128714	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs552339299	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs557437764	G>A,T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, upstream transcript variant, synonymous variant
rs566540835	A>-,AA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs571966529	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs727504087	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic upstream transcript variant
rs727504089	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, stop gained
rs727504096	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs745770404	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs746441159	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs746471701	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs746625317	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs746838237	->T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs746972457	G>-	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs747322128	C>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs747895516	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs748365248	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs748540413	A>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs749293235	A>G,T	Likely-benign, pathogenic-likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs749295454	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs749454235	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs749768205	TC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs750190287	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs750730042	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs751084512	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751754608	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs752305132	->A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs752327566	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs752509045	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs752994816	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs753307105	C>T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs753471298	C>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs753492974	T>C,G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs754392766	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs754626014	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs755566688	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs755688912	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs757099749	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs757521428	T>C	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs757854282	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs757946548	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs758352210	G>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs758732107	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs759439479	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs759851475	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs760222236	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs760426769	G>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs760710708	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs760921148	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs764409182	ACAAA>-	Pathogenic	Stop gained, inframe indel, coding sequence variant, non coding transcript variant
rs765020336	G>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, downstream transcript variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs765209037	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs765871629	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs767511678	A>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs767695967	T>A,G	Likely-pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs767737392	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs770494581	C>T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs770522674	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs771180444	GT>-	Pathogenic, likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs771563591	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs773136605	C>G,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs773991918	GG>-,GGG	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs774250209	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs774759689	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs775511838	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs775628123	G>A,C	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs775638588	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs777183511	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs777377414	A>C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs777976050	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs777999875	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs778537772	C>-	Pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs779050294	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant
rs779168950	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs780097121	G>A,C,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs780898021	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs786204241	C>T	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs786204588	CATT>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, initiator codon variant, coding sequence variant, genic upstream transcript variant
rs786204688	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs786204696	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs786204707	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs786204749	G>T	Pathogenic-likely-pathogenic	Non coding transcript variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs786205582	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs794727037	G>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs794727466	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs794727566	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs794727572	TC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727680	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs794727756	C>A,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, stop gained, intron variant, coding sequence variant
rs794727759	A>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs797044607	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797044713	->G	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs797044745	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045101	A>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs863224528	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs868562051	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs868673401	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs886039888	T>G	Likely-pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs886042676	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs886042677	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043593	TG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886061616	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886061623	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, splice donor variant
rs908880474	->T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs910497248	CA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs913487671	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1020621286	T>C,G	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516201	C>G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1057516221	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516263	->A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, stop gained
rs1057516283	T>-	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057516382	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057516407	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant, splice acceptor variant
rs1057516413	->ATGG	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516441	G>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057516445	G>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1057516490	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516562	ATTCACTCTCACC>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, splice donor variant, intron variant
rs1057516577	G>A	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1057516588	C>A	Likely-pathogenic	Splice donor variant
rs1057516594	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057516596	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516607	C>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516608	G>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516626	TA>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516690	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516691	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057516692	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516697	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice donor variant
rs1057516706	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516709	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516751	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516762	TCACAATGTCACAGGACCGATTGCCCACAAGT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516768	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516775	G>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516804	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516872	T>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057516885	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516922	A>-	Pathogenic-likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516975	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516982	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1057517071	->A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517078	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517158	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1057517178	A>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517220	GTCA>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, initiator codon variant, frameshift variant
rs1057517244	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs1057517270	A>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1057517273	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517324	C>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517357	->AACT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, stop gained
rs1057517378	CTA>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517387	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517394	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057518952	->C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057524563	C>G,T	Likely-pathogenic, uncertain-significance	Downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1060501356	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs1064796287	TCTTCTGT>CAGA	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1160209891	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1183281205	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1203260419	T>C,G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1210846081	T>C	Pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant, non coding transcript variant, intron variant
rs1226122841	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1240212722	T>C	Likely-pathogenic	Intron variant
rs1246693314	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1273202231	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1295732689	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1325403863	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1334145215	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1334913120	T>-	Likely-pathogenic	Splice acceptor variant
rs1340926191	T>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs1344820986	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1350620976	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1351918391	C>A,T	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1373102999	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant
rs1405067373	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1412045164	T>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1446729264	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1464962854	A>C,G	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs1485161784	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1488844530	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554132790	C>T	Likely-pathogenic	Splice acceptor variant
rs1554133736	C>T	Likely-pathogenic	Splice donor variant
rs1554134080	GATAGAGGTCTGTATCC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554162725	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1554167673	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554169567	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554191298	->GGCG	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554194504	AC>-	Likely-pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1554194511	A>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554194574	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554197152	T>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554198072	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554198717	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554198780	CAAGG>TGACCCCTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1554199226	G>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554199349	ACGGGCGAAGAACCTGTTGCCAGCCCAGACC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554200778	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1554200780	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554204054	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554207834	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554208257	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554209188	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554210085	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554211308	CGCTGTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554212326	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554212403	T>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554213853	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs1554216499	->AACT	Likely-pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554216538	CC>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554216571	ACTTGCACAG>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554217691	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1554217913	TGGAGGCCA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, inframe deletion, non coding transcript variant, genic upstream transcript variant
rs1554218506	ATT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554218519	->AA	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554218666	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1554218926	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1554219429	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554219449	->A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554220431	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554221465	->G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554221478	CTA>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1554222508	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554222939	A>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1554223403	C>T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554223950	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant, intron variant
rs1554224707	A>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554227162	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554227215	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554227278	T>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554228601	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554229312	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554243821	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1554263076	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1554270880	C>G	Likely-pathogenic	Splice donor variant
rs1554271235	T>C	Likely-pathogenic	Splice acceptor variant
rs1554282419	C>A	Likely-pathogenic	Splice donor variant
rs1554282540	C>G	Pathogenic	Splice acceptor variant
rs1554289495	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554299291	TAATGTTTCAACAAATC>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant
rs1561920869	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561921358	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561967407	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1562140771	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1562581286	CT>TC	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1581726525	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs1581727260	C>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1581763359	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1581806935	AGA>CT	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581808463	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1581809655	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581810497	->G	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581811762	CC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581812192	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581827172	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581910796	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1581910835	G>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581928360	C>T	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1581955260	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1581956689	CC>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581974348	C>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581992845	C>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1581999471	A>C	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs1582002018	C>T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1582013246	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1582024305	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1582038191	G>C	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1582053820	T>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1582064292	C>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1582064844	->T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582085757	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1582154630	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1582436832	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582441455	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1582441668	->TGTCACTAAT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582469538	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1582470309	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant, 3 prime UTR variant
rs1582479341	CCTTGACTTCTTTCACAGT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582925274	T>A	Pathogenic	Intron variant, splice acceptor variant
rs1583013487	CGGCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583053996	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583054534	TAGACAATGTATCACGT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583055258	GCTCTAA>ACTCTAG	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs1583202788	T>G	Likely-pathogenic	Intron variant
rs1583203255	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all(330)

miRTarBase ID	miRNA	Experiments	Reference
MIRT722332	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT722331	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT722330	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT722329	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT722328	hsa-miR-574-5p	HITS-CLIP	19536157
MIRT722327	hsa-miR-891b	HITS-CLIP	19536157
MIRT722326	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT722325	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722324	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722323	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT722322	hsa-miR-892c-3p	HITS-CLIP	19536157
MIRT666961	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT666960	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT666959	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT666958	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT666957	hsa-miR-617	HITS-CLIP	23824327
MIRT666956	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT666955	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT666954	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT666953	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT666952	hsa-miR-5095	HITS-CLIP	23824327
MIRT666951	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT666950	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT666949	hsa-miR-4323	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT639390	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT639389	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT639388	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT483438	hsa-miR-892c-5p	PAR-CLIP	23592263
MIRT483437	hsa-miR-759	PAR-CLIP	23592263
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	27418678
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT722332	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT722331	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT722330	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT722329	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT722328	hsa-miR-574-5p	HITS-CLIP	19536157
MIRT722327	hsa-miR-891b	HITS-CLIP	19536157
MIRT722326	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT722325	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722324	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722323	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT722322	hsa-miR-892c-3p	HITS-CLIP	19536157
MIRT666961	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT666960	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT666959	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT666958	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT666957	hsa-miR-617	HITS-CLIP	23824327
MIRT666956	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT666955	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT666954	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT666953	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT666952	hsa-miR-5095	HITS-CLIP	23824327
MIRT666951	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT666950	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT666949	hsa-miR-4323	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT639390	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT639389	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT639388	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT483438	hsa-miR-892c-5p	PAR-CLIP	23592263
MIRT483437	hsa-miR-759	PAR-CLIP	23592263
MIRT1237412	hsa-miR-1	CLIP-seq
MIRT1237413	hsa-miR-128	CLIP-seq
MIRT1237414	hsa-miR-133a	CLIP-seq
MIRT1237415	hsa-miR-133b	CLIP-seq
MIRT1237416	hsa-miR-140-3p	CLIP-seq
MIRT1237417	hsa-miR-206	CLIP-seq
MIRT1237418	hsa-miR-3129-3p	CLIP-seq
MIRT1237419	hsa-miR-3155	CLIP-seq
MIRT1237420	hsa-miR-3155b	CLIP-seq
MIRT1237421	hsa-miR-3189-3p	CLIP-seq
MIRT1237422	hsa-miR-3190	CLIP-seq
MIRT1237423	hsa-miR-3545-3p	CLIP-seq
MIRT1237424	hsa-miR-3607-5p	CLIP-seq
MIRT1237425	hsa-miR-3647-3p	CLIP-seq
MIRT1237426	hsa-miR-3673	CLIP-seq
MIRT1237427	hsa-miR-3919	CLIP-seq
MIRT1237428	hsa-miR-4266	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT1237430	hsa-miR-4289	CLIP-seq
MIRT1237431	hsa-miR-4307	CLIP-seq
MIRT1237432	hsa-miR-4462	CLIP-seq
MIRT1237433	hsa-miR-4490	CLIP-seq
MIRT1237434	hsa-miR-452	CLIP-seq
MIRT1237435	hsa-miR-4676-3p	CLIP-seq
MIRT1237436	hsa-miR-4687-3p	CLIP-seq
MIRT1237437	hsa-miR-4693-5p	CLIP-seq
MIRT1237438	hsa-miR-4720-3p	CLIP-seq
MIRT1237439	hsa-miR-4752	CLIP-seq
MIRT1237440	hsa-miR-4757-5p	CLIP-seq
MIRT1237441	hsa-miR-484	CLIP-seq
MIRT1237442	hsa-miR-514	CLIP-seq
MIRT1237443	hsa-miR-514b-3p	CLIP-seq
MIRT1237444	hsa-miR-548a-3p	CLIP-seq
MIRT1237445	hsa-miR-548a-5p	CLIP-seq
MIRT1237446	hsa-miR-548ab	CLIP-seq
MIRT1237447	hsa-miR-548ac	CLIP-seq
MIRT1237448	hsa-miR-548ae	CLIP-seq
MIRT1237449	hsa-miR-548aj	CLIP-seq
MIRT1237450	hsa-miR-548ak	CLIP-seq
MIRT1237451	hsa-miR-548am	CLIP-seq
MIRT1237452	hsa-miR-548b-5p	CLIP-seq
MIRT1237453	hsa-miR-548c-5p	CLIP-seq
MIRT1237454	hsa-miR-548d-3p	CLIP-seq
MIRT1237455	hsa-miR-548d-5p	CLIP-seq
MIRT1237456	hsa-miR-548e	CLIP-seq
MIRT1237457	hsa-miR-548f	CLIP-seq
MIRT1237458	hsa-miR-548h	CLIP-seq
MIRT1237459	hsa-miR-548i	CLIP-seq
MIRT1237460	hsa-miR-548j	CLIP-seq
MIRT1237461	hsa-miR-548k	CLIP-seq
MIRT1237462	hsa-miR-548l	CLIP-seq
MIRT1237463	hsa-miR-548w	CLIP-seq
MIRT1237464	hsa-miR-548x	CLIP-seq
MIRT1237465	hsa-miR-548y	CLIP-seq
MIRT1237466	hsa-miR-548z	CLIP-seq
MIRT1237467	hsa-miR-559	CLIP-seq
MIRT1237468	hsa-miR-580	CLIP-seq
MIRT1237469	hsa-miR-582-3p	CLIP-seq
MIRT1237470	hsa-miR-583	CLIP-seq
MIRT1237471	hsa-miR-613	CLIP-seq
MIRT1237472	hsa-miR-651	CLIP-seq
MIRT1237473	hsa-miR-1205	CLIP-seq
MIRT1237474	hsa-miR-3074-5p	CLIP-seq
MIRT1237475	hsa-miR-3973	CLIP-seq
MIRT1237476	hsa-miR-516a-3p	CLIP-seq
MIRT1237477	hsa-miR-520g	CLIP-seq
MIRT1237478	hsa-miR-520h	CLIP-seq
MIRT1237479	hsa-miR-607	CLIP-seq
MIRT2297167	hsa-miR-101	CLIP-seq
MIRT2297168	hsa-miR-144	CLIP-seq
MIRT2297169	hsa-miR-365	CLIP-seq
MIRT2392580	hsa-miR-1271	CLIP-seq
MIRT2392581	hsa-miR-182	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT2392582	hsa-miR-513a-3p	CLIP-seq
MIRT2392583	hsa-miR-96	CLIP-seq
MIRT2392580	hsa-miR-1271	CLIP-seq
MIRT2392581	hsa-miR-182	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT2594530	hsa-miR-4642	CLIP-seq
MIRT2392582	hsa-miR-513a-3p	CLIP-seq
MIRT2392583	hsa-miR-96	CLIP-seq
MIRT2392580	hsa-miR-1271	CLIP-seq
MIRT2392581	hsa-miR-182	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT2594530	hsa-miR-4642	CLIP-seq
MIRT2392582	hsa-miR-513a-3p	CLIP-seq
MIRT2392583	hsa-miR-96	CLIP-seq

Show/Hide all(63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000132	Process	Establishment of mitotic spindle orientation	ISS
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	ISS
GO:0003382	Process	Epithelial cell morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	16243292, 18235088, 20048263, 20709014
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	20709014
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005813	Component	Centrosome	IDA	20554582
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	15458427, 16956880, 17470460
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	IMP	20048263
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	17669261
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	19943112
GO:0009897	Component	External side of plasma membrane	TAS	11919560
GO:0010824	Process	Regulation of centrosome duplication	IMP	20554582
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	16243292
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022407	Process	Regulation of cell-cell adhesion	ISS
GO:0030155	Process	Regulation of cell adhesion	ISS
GO:0032006	Process	Regulation of TOR signaling	IMP	19524688
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	21300060
GO:0036064	Component	Ciliary basal body	IDA	14978161, 14983006
GO:0038023	Function	Signaling receptor activity	NAS	11919560
GO:0042592	Process	Homeostatic process	NAS	11919560
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	19943112, 21300060
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045216	Process	Cell-cell junction organization	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20709014
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0051660	Process	Establishment of centrosome localization	ISS
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	21300060
GO:0060271	Process	Cilium assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IEA
GO:0070062	Component	Extracellular exosome	ISS
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	17669261
GO:0072686	Component	Mitotic spindle	IDA	20554582
GO:0090175	Process	Regulation of establishment of planar polarity	IEA
GO:0090175	Process	Regulation of establishment of planar polarity	ISS
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	ISS
GO:1904054	Process	Regulation of cholangiocyte proliferation	IMP	30898581

MIM	HGNC	e!Ensembl
606702	9016	ENSG00000170927

Protein

UniProt ID

P08F94

Protein name

Fibrocystin (Polycystic kidney and hepatic disease 1 protein) (Polyductin) (Tigmin)

Protein function

Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring co

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01833	TIG	259 → 341	IPT/TIG domain	Domain
PF01833	TIG	931 → 1010	IPT/TIG domain	Domain
PF01833	TIG	1019 → 1102	IPT/TIG domain	Domain
PF01833	TIG	1108 → 1192	IPT/TIG domain	Domain
PF01833	TIG	1389 → 1479	IPT/TIG domain	Domain
PF01833	TIG	1486 → 1569	IPT/TIG domain	Domain
PF01833	TIG	1573 → 1658	IPT/TIG domain	Domain
PF10162	G8	1933 → 2052	G8 domain	Domain
PF13229	Beta_helix	2242 → 2419	Right handed beta helix region	Family
PF10162	G8	2748 → 2872	G8 domain	Domain
PF13229	Beta_helix	3002 → 3177	Right handed beta helix region	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather ind

Sequence

MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEI
HLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPN
PGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVIL
EAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVH
KKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIR
HVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASS
PFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVG
TADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNP
DVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIE
ELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPA
AQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDC
TDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSG
TARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQR
RQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDL
YTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATA
NQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQ
FLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPR
LDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDG
RIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLD
VEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFS
IEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDA
GAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVG
GSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSV
VLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHT
ILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLT
TVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYA
CSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGA
ELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGA
ANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITA
VTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLC
GLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPS
FSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNF
SLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGP
IELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLH
GSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQ
DTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEAN
APEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSL
TLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISW
EAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAG
YGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWES
AGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIK
TPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPH
AAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLAN
TPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSA
TFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLT
YLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPG
DDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPL
EKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNE
RIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTED
GRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPL
YSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTV
TNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSD
NVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLL
AVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGR
IGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNA
ENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGR
ALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADA
IWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQV
LRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMD
NLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHE
MPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISK
VIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKG
VIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPP
SEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFT
ARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQT
NNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIV
REEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLL
CPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL

Sequence length

4074

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Caroli Disease	caroli disease	rs200391019, rs764696718	N/A
Polycystic kidney disease	Polycystic kidney disease 4, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease	rs1581827172, rs1802073525, rs1057516922, rs200391019, rs1554183012, rs1057517078, rs752305132, rs1554220431, rs1582002018, rs747895516, rs398124478, rs1057516201, rs1060501356, rs786204749, rs1554208257 View all (324 more)	N/A
polycystic kidney disease	Polycystic kidney disease	rs786204707, rs200391019, rs367678592, rs367707903, rs181208607, rs760222236, rs376987651, rs137852944, rs1057517273, rs200179145, rs868562051, rs1446729264, rs1210846081, rs1554218506	N/A
Polycystic liver disease	Autosomal dominant polycystic liver disease	rs1582064844, rs137852949, rs1582064292, rs367707903, rs200391019, rs769559267, rs398124483, rs137852944, rs786204696, rs773136605, rs200432861, rs1473182306, rs774759689, rs1582441455, rs1334145215, rs781368899 View all (1 more)	N/A
Homocystinuria	classic homocystinuria	rs797044607	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
colon cancer	Colon cancer	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Glaucoma	Glaucoma	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
renal cyst	Renal cyst	N/A	N/A	ClinVar
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	34303217
Aneuploidy	Associate	34303217
Biliary Atresia	Associate	19292732
Cakut	Associate	27151922
Capillary Malformation Arteriovenous Malformation	Associate	28814334
Carcinoma Ductal	Associate	19292732
Carcinoma Hepatocellular	Associate	35602894
Carcinoma Renal Cell	Associate	38179759
Cardiomegaly	Associate	33059727
Caroli Disease	Associate	12846734, 14971004, 24710345, 28814334, 32957915, 34536170, 35715958, 38115240
Caroli disease isolated	Associate	24710345
Chemical and Drug Induced Liver Injury	Associate	35715958
Cholangiocarcinoma	Associate	19292732
Chromosomal Instability	Associate	38178618
Ciliopathies	Associate	25966130
Colonic Neoplasms	Associate	21274727, 38178618
Colorectal Neoplasms	Associate	21274727, 30804124, 38178618
Congenital Hypothyroidism	Associate	34536170
Cystic Disease Of Lung	Associate	36691356
Cysts	Associate	32957915
Death	Associate	12846734, 19940839, 30595564
Diabetes Mellitus Type 2	Associate	26634513
Digestive System Diseases	Associate	19292732
Early Onset Glaucoma	Associate	33059727
Epilepsy Benign Neonatal	Associate	19292732
Familial paroxysmal dystonia	Associate	19914852, 24009235
Fetal Death	Associate	34536170
Fibrosis	Associate	19940839
Fibrous Dysplasia of Bone	Associate	33059616
Genetic Diseases Inborn	Associate	24710345
Hepatic Fibrosis Congenital	Associate	12846734, 15698423, 16523049, 19292732, 19914852, 21945273, 23041322, 37872485
Hodgkin Disease	Associate	36691356
Hydrocephalus	Associate	25966130
Hypertension	Associate	15698423, 34536170
Hypertension Portal	Associate	15698423, 23582048
Infant Newborn Diseases	Associate	19292732
Kidney Cortex Necrosis	Associate	19940839
Kidney Diseases	Associate	19914852, 19940839, 27151922, 33059727, 33095447, 35715958
Kidney Diseases Cystic	Associate	32574212, 36573973, 36691356
Kidney Failure Chronic	Associate	15698423, 33059616
Lateral Medullary Syndrome	Associate	20413436
Liver Cirrhosis	Associate	23582048, 34536170
Liver Diseases	Associate	32919899, 33059727, 35211789
Liver Failure	Associate	28814334, 36691356
Metabolic Syndrome	Associate	34801968
Microsatellite Instability	Associate	38178618
Mycoses	Associate	33059727
Neonatal hemochromatosis	Associate	19292732
Neoplasms	Associate	38178618
Neoplasms by Histologic Type	Associate	19940839
Obesity	Associate	30677029
Perinatal Death	Associate	19940839
Peritonitis	Associate	30804124
Polycystic Kidney Autosomal Dominant	Associate	31488014, 38537868
Polycystic Kidney Autosomal Recessive	Associate	11898128, 12846734, 14971004, 15698423, 16199545, 16523049, 18256315, 19292732, 19914852, 19940839, 20413436, 20490649, 21274727, 21945273, 22415584 View all (26 more)
Polycystic Kidney Diseases	Associate	32779812, 33059616, 33437033
Polycystic liver disease	Associate	22415584, 36691356
Renal cell carcinoma 1	Associate	30566001
Renal Insufficiency Chronic	Associate	34536170
Respiratory Insufficiency	Associate	33059727
Sepsis	Associate	37872485
Stroke	Associate	36065636
Syndrome	Associate	27151922

PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)