COL4A4 (collagen type IV alpha 4 chain)

Gene

• Entrez ID: 1286
• Gene name: Collagen type IV alpha 4 chain
• Gene symbol: COL4A4
• Synonyms: ATS2, BFH, BFH1, CA44
• Chromosome: 2
• Chromosome location: 2q36.3
• Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV colla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35138315	G>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs55978207	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs114969026	T>C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912858	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912859	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912860	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912861	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912862	G>T	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs121912863	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs141127013	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs181528936	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, intron variant
rs188655353	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs190148408	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs201278620	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs201403066	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201648982	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201859109	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs368404711	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs369922627	A>C,G	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs370474706	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs374815903	C>A,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs375450996	C>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs533297350	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs534522842	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, genic upstream transcript variant
rs548019779	C>G	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs548799639	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs569681869	C>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs745672795	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs747805491	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs748473278	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749299357	C>T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs750345987	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs754669149	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs755649235	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs755927061	A>G,T	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, intron variant
rs755961411	C>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs757328549	C>G,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs757688183	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs760795817	C>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs762139460	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs766550724	G>A	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs768003309	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769783985	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs771943519	GAGTAT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs772517977	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs772699709	C>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs773081522	CTCCAGGCAAGCCAGGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs775926807	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs778043831	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs779930511	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs786205548	T>A	Likely-pathogenic	Intron variant
rs786205640	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869025329	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs886055729	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs891854419	G>C	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant
rs926605269	C>A,G,T	Likely-pathogenic	Missense variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs937550597	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs954701825	C>A,T	Likely-pathogenic	Splice donor variant
rs971779449	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs990679247	TCGATTTCCAGGATCCCC>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, intron variant, non coding transcript variant, coding sequence variant
rs1003748020	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1005389790	C>A,T	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1026613471	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, genic upstream transcript variant
rs1040287646	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1064796549	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs1158350974	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1162601696	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1189502123	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1201925443	C>A,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, missense variant
rs1203564054	TGGTGCTCCAGGCAAGCC>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, inframe deletion, coding sequence variant, intron variant
rs1206142672	GGG>-,GG,GGGG	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs1241404192	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1271416659	C>T	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1363277825	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1367906290	C>A,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1369097739	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1371408968	C>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant
rs1379525680	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1446915781	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1489351299	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1553611876	A>G	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553611909	G>AA	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553611947	G>A	Likely-pathogenic	Stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1553612309	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, missense variant, intron variant, coding sequence variant
rs1553612433	CTCGCATACCGCACAGCGGC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553612499	GGCGG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553622675	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553624029	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553624127	->TGGT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553625684	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553627655	GTGCTTACCTGA>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553639043	C>G	Pathogenic	Splice acceptor variant
rs1553640846	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553641611	GC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553641728	C>G	Likely-pathogenic	Splice acceptor variant
rs1553643669	->C	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553644383	CCA>ACAC	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553644402	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1553646081	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553658892	GGAACTCCTGGGTGGCCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553669674	C>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1553669704	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1553676221	ACCACTTGATCCTGGGAGGCCCTGCAGGCCTGGTGCTCCAGGCAAGCCAGGT>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553676230	C>T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553681700	C>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553681714	T>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1553682895	A>G	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553683192	C>G,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553683757	CTGATGTTAACAGCAAATGATGCTTACCCGAGGCCCTGGAAATCCA>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553688330	CGCCCTGG>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553688335	->T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553688696	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553688712	GCT>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, inframe indel
rs1553690565	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553690604	->CCCT	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553696207	A>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553712110	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1559394354	G>-	Pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1559395617	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1559396675	->AGTA	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1559402680	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1559406956	->CGTCT	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs1559429663	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559438651	C>A	Pathogenic	Splice acceptor variant
rs1559450594	->GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559455617	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559482299	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559493506	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559500363	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559503562	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559508134	->TG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559515075	A>C	Likely-pathogenic	Splice donor variant
rs1559515185	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559563141	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559563525	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559569975	C>T	Likely-pathogenic	Splice acceptor variant
rs1559590037	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1559594442	C>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559606445	AAATCCTTGTGGCCCAG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1559617617	C>T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559620132	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs1559628183	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1559631986	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559643753	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559644463	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs1559646395	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559677146	TC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1559742015	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1575696646	CCAG>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575714693	->CAGA	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575895541	C>GAG	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575895799	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576129421	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1576189036	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1576207007	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576238292	T>A	Likely-pathogenic	Splice acceptor variant
rs1576428862	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576457876	A>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576486164	->A	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576571835	->GACGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576812577	AC>TACATCA	Pathogenic	Splice donor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022562	hsa-miR-124-3p	Microarray	18668037
MIRT029341	hsa-miR-26b-5p	Microarray	19088304
MIRT437823	hsa-miR-150-5p	Luciferase reporter assay	23604143
MIRT659421	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659420	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT659419	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT659418	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT659417	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT659416	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT659415	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659414	hsa-miR-4302	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT659421	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659420	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT659419	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT659418	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT659417	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT659416	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT659415	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659414	hsa-miR-4302	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT902874	hsa-miR-1252	CLIP-seq
MIRT902875	hsa-miR-1258	CLIP-seq
MIRT902876	hsa-miR-1262	CLIP-seq
MIRT902877	hsa-miR-2054	CLIP-seq
MIRT902878	hsa-miR-219-2-3p	CLIP-seq
MIRT902879	hsa-miR-23a	CLIP-seq
MIRT902880	hsa-miR-23b	CLIP-seq
MIRT902881	hsa-miR-23c	CLIP-seq
MIRT902882	hsa-miR-29a	CLIP-seq
MIRT902883	hsa-miR-29b	CLIP-seq
MIRT902884	hsa-miR-29c	CLIP-seq
MIRT902885	hsa-miR-302a	CLIP-seq
MIRT902886	hsa-miR-302b	CLIP-seq
MIRT902887	hsa-miR-302c	CLIP-seq
MIRT902888	hsa-miR-302d	CLIP-seq
MIRT902889	hsa-miR-302e	CLIP-seq
MIRT902890	hsa-miR-3065-5p	CLIP-seq
MIRT902891	hsa-miR-3126-3p	CLIP-seq
MIRT902892	hsa-miR-3146	CLIP-seq
MIRT902893	hsa-miR-3163	CLIP-seq
MIRT902894	hsa-miR-3176	CLIP-seq
MIRT902895	hsa-miR-330-3p	CLIP-seq
MIRT902896	hsa-miR-340	CLIP-seq
MIRT902897	hsa-miR-3646	CLIP-seq
MIRT902898	hsa-miR-3659	CLIP-seq
MIRT902899	hsa-miR-3662	CLIP-seq
MIRT902900	hsa-miR-372	CLIP-seq
MIRT902901	hsa-miR-373	CLIP-seq
MIRT902902	hsa-miR-374c	CLIP-seq
MIRT902903	hsa-miR-380	CLIP-seq
MIRT902904	hsa-miR-3914	CLIP-seq
MIRT902905	hsa-miR-3922-3p	CLIP-seq
MIRT902906	hsa-miR-421	CLIP-seq
MIRT902907	hsa-miR-4261	CLIP-seq
MIRT902908	hsa-miR-4266	CLIP-seq
MIRT902909	hsa-miR-4272	CLIP-seq
MIRT902910	hsa-miR-4281	CLIP-seq
MIRT902911	hsa-miR-4282	CLIP-seq
MIRT902912	hsa-miR-4290	CLIP-seq
MIRT902913	hsa-miR-4329	CLIP-seq
MIRT902914	hsa-miR-4446-5p	CLIP-seq
MIRT902915	hsa-miR-4476	CLIP-seq
MIRT902916	hsa-miR-4503	CLIP-seq
MIRT902917	hsa-miR-4504	CLIP-seq
MIRT902918	hsa-miR-4528	CLIP-seq
MIRT902919	hsa-miR-4658	CLIP-seq
MIRT902920	hsa-miR-4662a-3p	CLIP-seq
MIRT902921	hsa-miR-4677-3p	CLIP-seq
MIRT902922	hsa-miR-4679	CLIP-seq
MIRT902923	hsa-miR-4701-3p	CLIP-seq
MIRT902924	hsa-miR-4717-3p	CLIP-seq
MIRT902925	hsa-miR-4764-5p	CLIP-seq
MIRT902926	hsa-miR-4766-3p	CLIP-seq
MIRT902927	hsa-miR-4802-3p	CLIP-seq
MIRT902928	hsa-miR-490-5p	CLIP-seq
MIRT902929	hsa-miR-491-3p	CLIP-seq
MIRT902930	hsa-miR-498	CLIP-seq
MIRT902931	hsa-miR-511	CLIP-seq
MIRT902932	hsa-miR-514	CLIP-seq
MIRT902933	hsa-miR-514b-3p	CLIP-seq
MIRT902934	hsa-miR-519a	CLIP-seq
MIRT902935	hsa-miR-519b-3p	CLIP-seq
MIRT902936	hsa-miR-519c-3p	CLIP-seq
MIRT902937	hsa-miR-520a-3p	CLIP-seq
MIRT902938	hsa-miR-520b	CLIP-seq
MIRT902939	hsa-miR-520c-3p	CLIP-seq
MIRT902940	hsa-miR-520d-3p	CLIP-seq
MIRT902941	hsa-miR-520e	CLIP-seq
MIRT902942	hsa-miR-548p	CLIP-seq
MIRT902943	hsa-miR-574-5p	CLIP-seq
MIRT902944	hsa-miR-616	CLIP-seq
MIRT902945	hsa-miR-642b	CLIP-seq
MIRT902946	hsa-miR-655	CLIP-seq
MIRT902947	hsa-miR-767-5p	CLIP-seq
MIRT1920360	hsa-miR-1206	CLIP-seq
MIRT1920361	hsa-miR-375	CLIP-seq
MIRT1920360	hsa-miR-1206	CLIP-seq
MIRT1920361	hsa-miR-375	CLIP-seq
MIRT1921200	hsa-miR-590-3p	CLIP-seq
MIRT1920360	hsa-miR-1206	CLIP-seq
MIRT1920361	hsa-miR-375	CLIP-seq
MIRT902879	hsa-miR-23a	CLIP-seq
MIRT902880	hsa-miR-23b	CLIP-seq
MIRT902881	hsa-miR-23c	CLIP-seq
MIRT1967753	hsa-miR-299-5p	CLIP-seq
MIRT1967754	hsa-miR-3194-5p	CLIP-seq
MIRT1967755	hsa-miR-3909	CLIP-seq
MIRT1967756	hsa-miR-3919	CLIP-seq
MIRT1967757	hsa-miR-4320	CLIP-seq
MIRT1967758	hsa-miR-4493	CLIP-seq
MIRT1967759	hsa-miR-520a-5p	CLIP-seq
MIRT1967760	hsa-miR-525-5p	CLIP-seq
MIRT1967761	hsa-miR-576-5p	CLIP-seq
MIRT902947	hsa-miR-767-5p	CLIP-seq
MIRT1967762	hsa-miR-885-3p	CLIP-seq
MIRT2203586	hsa-miR-1207-5p	CLIP-seq
MIRT2203587	hsa-miR-1827	CLIP-seq
MIRT2203588	hsa-miR-185	CLIP-seq
MIRT902879	hsa-miR-23a	CLIP-seq
MIRT902880	hsa-miR-23b	CLIP-seq
MIRT902881	hsa-miR-23c	CLIP-seq
MIRT902882	hsa-miR-29a	CLIP-seq
MIRT902883	hsa-miR-29b	CLIP-seq
MIRT902884	hsa-miR-29c	CLIP-seq
MIRT902893	hsa-miR-3163	CLIP-seq
MIRT2203589	hsa-miR-3180-5p	CLIP-seq
MIRT2203590	hsa-miR-338-3p	CLIP-seq
MIRT2203591	hsa-miR-3612	CLIP-seq
MIRT2203592	hsa-miR-3915	CLIP-seq
MIRT2203593	hsa-miR-3928	CLIP-seq
MIRT2203594	hsa-miR-4257	CLIP-seq
MIRT2203595	hsa-miR-4270	CLIP-seq
MIRT2203596	hsa-miR-4306	CLIP-seq
MIRT2203597	hsa-miR-4441	CLIP-seq
MIRT902915	hsa-miR-4476	CLIP-seq
MIRT2203598	hsa-miR-4530	CLIP-seq
MIRT2203599	hsa-miR-4644	CLIP-seq
MIRT2203600	hsa-miR-4760-5p	CLIP-seq
MIRT2203601	hsa-miR-4763-3p	CLIP-seq
MIRT2203602	hsa-miR-4773	CLIP-seq
MIRT902934	hsa-miR-519a	CLIP-seq
MIRT902935	hsa-miR-519b-3p	CLIP-seq
MIRT902936	hsa-miR-519c-3p	CLIP-seq
MIRT2203603	hsa-miR-532-3p	CLIP-seq
MIRT1921200	hsa-miR-590-3p	CLIP-seq
MIRT2203604	hsa-miR-650	CLIP-seq
MIRT2203605	hsa-miR-940	CLIP-seq
MIRT2447443	hsa-miR-1292	CLIP-seq
MIRT2447444	hsa-miR-186	CLIP-seq
MIRT2447445	hsa-miR-2110	CLIP-seq
MIRT2447446	hsa-miR-3133	CLIP-seq
MIRT2447447	hsa-miR-3908	CLIP-seq
MIRT2447448	hsa-miR-4271	CLIP-seq
MIRT2447449	hsa-miR-4725-3p	CLIP-seq
MIRT2447443	hsa-miR-1292	CLIP-seq
MIRT2447444	hsa-miR-186	CLIP-seq
MIRT2447445	hsa-miR-2110	CLIP-seq
MIRT2447446	hsa-miR-3133	CLIP-seq
MIRT2447447	hsa-miR-3908	CLIP-seq
MIRT2447448	hsa-miR-4271	CLIP-seq
MIRT2447449	hsa-miR-4725-3p	CLIP-seq
MIRT2447443	hsa-miR-1292	CLIP-seq
MIRT2447444	hsa-miR-186	CLIP-seq
MIRT2447445	hsa-miR-2110	CLIP-seq
MIRT2447446	hsa-miR-3133	CLIP-seq
MIRT2447447	hsa-miR-3908	CLIP-seq
MIRT2447448	hsa-miR-4271	CLIP-seq
MIRT2447449	hsa-miR-4725-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMX1B	Activation	11175791

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	IMP	17942953, 19675380
GO:0005576	Component	Extracellular region	TAS
GO:0005587	Component	Collagen type IV trimer	IBA	21873635
GO:0005587	Component	Collagen type IV trimer	IDA	7523402
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005604	Component	Basement membrane	IDA	2211832
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0032836	Process	Glomerular basement membrane development	IBA	21873635
GO:0032836	Process	Glomerular basement membrane development	IMP	17942953, 19675380
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231

Other IDs

• MIM: 120131
• HGNC: 2206
• e!Ensembl: ENSG00000081052

Protein

• UniProt ID: P53420
• Protein name: Collagen alpha-4(IV) chain
• Protein function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
• PDB: 5NB1, 6WKU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	62 → 121	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	118 → 176	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	181 → 238	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	296 → 360	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	365 → 428	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	400 → 457	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	494 → 559	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	906 → 967	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	969 → 1029	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1015 → 1080	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1082 → 1141	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1133 → 1195	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1196 → 1253	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1313 → 1372	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1466 → 1571	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1574 → 1688	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Sequence:

  MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPE
  KGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGL
  DGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILG
  AVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKG
  QMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGE
  KGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVT
  PPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG
  EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGR
  GPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGL
  PGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGP
  PGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHPGVRGPDGLKG
  QKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLSGSDGHKGRPGTPGTAEIPGP
  PGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPPGKRGLSGVPG
  IKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPG
  LPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPG
  PPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPG
  DEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEK
  GQPGPPGPPGPPGSTGLRGFIGFPGLPGDQGEPGSPGPPGFSGIDGARGPKGNKGDPASH
  FGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGL
  RGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPP
  GPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPP
  GDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGK
  DGQKGPVGFPGPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPG
  LPGAPGMRGPEGAMGLPGMRGPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGY
  PGGPGPPGPIGDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQE
  KAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIR
  PYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPG
  SCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKI
  SRCQVCVKYS

• Sequence length: 1690

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Protein digestion and absorption
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Laminin interactions
Non-integrin membrane-ECM interactions
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alport syndrome	Alport Syndrome, Alport Syndrome, Autosomal Dominant, Alport Syndrome, Autosomal Recessive, Alport syndrome, dominant type, Alport syndrome, recessive type, ALPORT SYNDROME 3, AUTOSOMAL DOMINANT, ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome	rs104886303, rs121912858, rs121912859, rs121912860, rs121912861, rs121912862, rs121912824, rs121912825, rs1325453230, rs121912826, rs267606745, rs104886440, rs104886071, rs104886079, rs104886101, rs281874670, rs281874673, rs104886142, rs104886189, rs104886210, rs104886247, rs104886286, rs281874753, rs267599231, rs876657397, rs1553676221, rs1057519376, rs1057519377, rs201697532, rs374815903, rs200287952, rs1057516204, rs200672668, rs375040636, rs1060499654, rs1114167371, rs1131691738, rs1553627655, rs1363277825, rs1553690565, rs1175052474, rs748901402, rs1553641611, rs1189502123, rs534522842, rs1553683757, rs375450996, rs745672795, rs1553759430, rs868002181, rs756231749, rs35138315, rs1553764454, rs371334239, rs1553611876, rs1553612433, rs1553622675, rs1553625684, rs1553639043, rs773515249, rs1553760558, rs1556420349, rs1553612309, rs1206142672, rs369922627, rs1553624127, rs778043831, rs1553641728, rs768003309, rs1553643669, rs1553644402, rs1553658892, rs954701825, rs1553669704, rs779930511, rs926605269, rs1553612499, rs891854419, rs755927061, rs762518741, rs775373641, rs1553751122, rs1553611947, rs988439345, rs1274459294, rs1553755124, rs772958162, rs1553755767, rs993103826, rs1196996393, rs1553762113, rs749383170, rs1446915781, rs1553682895, rs1553683192, rs1489351299, rs1553688712, rs748473278, rs1553690604, rs1553696207, rs937550597, rs1553611909, rs1203564054, rs773081522, rs1491486533, rs1553688330, rs1553753119, rs1422638161, rs754669149, rs1553712110, rs1553757096, rs1396602090, rs1553758919, rs1553762314, rs202001097, rs749390823, rs1553750900, rs1346138010, rs1553765265, rs1369097739, rs1469479748, rs748026887, rs1553766404, rs1444785718, rs1553760257, rs766306957, rs371172166, rs766900945, rs1553762279, rs769783985, rs201648982, rs1553762936, rs781566652, rs769863513, rs867868993, rs760846085, rs1351781261, rs1553676230, rs1553681714, rs1553688696, rs1201925443, rs1553725815, rs1553750572, rs1553751120, rs1553752199, rs756133651, rs1158937060, rs1553758893, rs1553759476, rs1306992119, rs1553759665, rs1440033157, rs1553760802, rs1445615417, rs759873621, rs1553766735, rs1559617617, rs1026613471, rs1559882199, rs1559395617, rs772708743, rs1040287646, rs1241404192, rs1559873550, rs1569492951, rs1569494378, rs1559394354, rs1559455617, rs1559563141, rs1559563525, rs1559594442, rs1559606445, rs1559620132, rs1005389790, rs923865420, rs1559644463, rs1559646395, rs1559890352, rs983885088, rs1559909384, rs1559914770, rs1559628183, rs368434069, rs1559913871, rs1559878862, rs1575895541, rs1569492161, rs1574803132, rs1271416659, rs1575714693, rs1576207007, rs1576428862, rs1576457876, rs760795817, rs1574699806, rs779575469, rs1399954090, rs1574813382, rs1574823172, rs1574823188, rs1574813350, rs1574658390, rs1576129421, rs1574782406, rs1453590085, rs750308686, rs1574701767, rs1574728278, rs1574786225, rs1603290681, rs1574698507, rs750345987, rs1574767962, rs141127013, rs1575696646, rs1003748020, rs1576571835, rs1576812577, rs1207493576, rs1574681401, rs1363441287, rs1247804051, rs1574745989, rs1574782666, rs1402894646, rs746766677, rs1574803208, rs1305836268, rs2073752422, rs2071916145, rs1974295317, rs759043857, rs2073446714, rs1363058249	24052634, 9269635, 11572889, 19129241, 24052634, 15086897, 9269635, 19129241, 15086897, 11572889, 9792860, 27281700, 7987396, 12325029, 25381091, 15954103, 24854265, 24052634, 19129241, 17396119, 25755845, 26809805, 28632965, 25307543, 25596306, 24633401, 25525159, 26934356, 28542346, 16338941, 14582039, 12748344
Alport syndrome, x-linked	Alport Syndrome, X-Linked	rs104886229, rs104886121, rs104886091, rs104886043, rs104886303, rs104886308, rs104886050, rs104886047, rs281874669, rs281874722, rs104886414, rs281874755, rs104886429, rs104886431, rs104886059, rs104886060, rs104886061, rs104886434, rs104886063, rs281874759, rs104886066, rs104886440, rs281874763, rs104886071, rs104886073, rs281874768, rs104886079, rs104886082, rs104886086, rs104886088, rs104886092, rs104886096, rs104886094, rs104886107, rs281874659, rs104886100, rs104886101, rs104886111, rs104886112, rs104886319, rs104886113, rs104886116, rs281874667, rs281874668, rs104886118, rs281874670, rs104886122, rs281874673, rs104886129, rs281874674, rs281874675, rs104886130, rs104886131, rs104886142, rs104886144, rs104886147, rs104886153, rs104886157, rs104886341, rs104886167, rs104886344, rs104886163, rs281874688, rs281874689, rs104886174, rs104886183, rs104886356, rs281874696, rs104886185, rs281874697, rs104886188, rs104886189, rs281874703, rs104886363, rs104886195, rs104886371, rs104886374, rs104886210, rs104886214, rs104886217, rs104886213, rs104886219, rs104886221, rs281874712, rs104886225, rs281874713, rs104886228, rs104886388, rs104886236, rs104886244, rs104886251, rs104886253, rs104886255, rs104886261, rs281874724, rs1556453243, rs104886269, rs587776402, rs587776403, rs104886276, rs104886279, rs104886413, rs104886293, rs281874743, rs104886287, rs104886288, rs281874747, rs104886298, rs104886302, rs281874753, rs104886306, rs281874738, rs281874761, rs281874671, rs397515496, rs797045035, rs869025333, rs869025334, rs104886338, rs869025331, rs869025332, rs878853089, rs878853114, rs886039890, rs886039886, rs1057516187, rs1057516203, rs1060499694, rs1060499710, rs1556451235, rs1131691795, rs1131692246, rs1556403112, rs1556404985, rs1556407064, rs281874702, rs104886282, rs1556411631, rs1556404027, rs1556407078, rs1556453276, rs1556419850, rs1556405010, rs1556405926, rs1556406001, rs1556406859, rs1556410516, rs1556419831, rs1556419869, rs1556419895, rs1556420349, rs1556420358, rs1556439394, rs1569509234, rs1569505374, rs1569505771, rs760109866, rs104886074, rs1569489353, rs1569490592, rs1569489328, rs1569505604, rs1569507535, rs1569469409, rs1569488426, rs1569488434, rs1569488437, rs767619131, rs104886054, rs104886443, rs1569491107, rs1569491399, rs1569491718, rs1210495852, rs1569493670, rs1569494267, rs867625069, rs886041509, rs1569497776, rs104886368, rs104886372, rs1569498896, rs1569505758, rs606231372, rs1569509257, rs1569490379, rs1569490932, rs1569492147, rs1569494061, rs1569494304, rs1569497690, rs1569498623, rs1569504056, rs1569505613, rs1569499015, rs1569493662, rs1569508360, rs1569497030, rs1569504068, rs1603290169, rs1603292422, rs1603297305, rs1603310370, rs104886235, rs1603310380, rs1603323174, rs104886424, rs1603279819, rs1603293624, rs1603278993, rs1603290131, rs1603279005, rs281874684, rs1603293639, rs1603328372, rs1556446493, rs1603323278, rs1603276159, rs1603276180, rs1603282474, rs1603287820, rs759179999, rs1603290148, rs1603290199, rs1603290681, rs281874683, rs1603291770, rs1603292021, rs1603293553, rs1603293570, rs1603293605, rs1291655627, rs1603297334, rs1603311030, rs1603323355, rs1603326397, rs104886078, rs1603326561, rs281874734, rs1603283567, rs1603286154, rs1603290763, rs1603290796, rs770451831, rs1603298378, rs1603298869, rs1603298993, rs1603306716, rs1603306718, rs1603318143, rs1603318154, rs1603328025, rs104886190, rs2068061224, rs750941179, rs2068718016, rs2067083148, rs2066231013, rs2066342176, rs1569494281, rs2068082287, rs2068126851, rs2068537554	24052634
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
Benign hematuria	NON RARE IN EUROPE: Benign familial hematuria	rs121912860, rs121912861, rs121912826, rs1553676221, rs869025329, rs869025328, rs869025326, rs869025327, rs374815903, rs200287952, rs1553690565, rs35138315, rs773081522, rs1559438651, rs772708743, rs923865420, rs1559742015, rs1559643753, rs1574813350, rs760795817
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Hematuria	Hematuria, Benign Familial	rs104886308, rs1131692060, rs1306992119	12631110, 24052634, 8787673, 11961012
Hypertension	Hypertensive disease	rs13306026, rs13333226
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease name	Disease term	dbSNP ID	References
Corneal erosion	Corneal erosion
Hypertensive nephropathy	hypertensive nephropathy
Lenticonus	Anterior lenticonus
Nephritis	Nephritis
Renal glomerular disease	Renal glomerular disease
Thin basement membrane disease	Thin basement membrane disease