ALMS1 (ALMS1 centrosome and basal body associated protein)

Gene

• Entrez ID: 7840
• Gene name: ALMS1 centrosome and basal body associated protein
• Gene symbol: ALMS1
• Synonyms (NCBI Gene): ALSS
• Chromosome: 2
• Chromosome location: 2p13.1
• Summary: This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cau

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35902379	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs45596541	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs58806616	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs73945001	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs77517267	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, missense variant
rs78102263	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs115444326	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, coding sequence variant, missense variant
rs137932254	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142558799	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs148040591	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150825781	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs188807564	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189914793	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs193919338	C>T	Pathogenic	Coding sequence variant, stop gained
rs193919339	G>A	Pathogenic	Coding sequence variant, stop gained
rs193919340	C>T	Pathogenic	Coding sequence variant, stop gained
rs193922693	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199573929	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199874928	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199922877	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200441305	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200459890	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200491758	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200897773	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201252375	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201390755	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201446579	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201478438	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201673771	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201874722	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs367877017	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs369314182	T>C,G	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs371511963	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373364340	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs374681570	G>A	Likely-pathogenic	Splice donor variant
rs375019820	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs376719320	G>A,T	Likely-pathogenic	Splice donor variant
rs387906312	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs387906313	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514576	G>T	Pathogenic	Coding sequence variant, stop gained
rs398122991	->GGCTTTGA	Not-provided, pathogenic	Coding sequence variant, inframe indel, stop gained
rs398122992	AGGTCTAATCAAATTAAAA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs398122993	CACA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs398122994	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs398122995	C>T	Not-provided, pathogenic	Coding sequence variant, stop gained
rs539612316	T>A	Pathogenic	Coding sequence variant, stop gained
rs549857076	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs563393715	C>A,G,T	Pathogenic, uncertain-significance, benign	Synonymous variant, stop gained, missense variant, coding sequence variant
rs746640196	C>G,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs747272625	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs748477695	A>G	Likely-pathogenic	Splice acceptor variant
rs748892226	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs750087396	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs750136202	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs750737346	G>A,C	Likely-pathogenic	Splice acceptor variant
rs750907119	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs751804613	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs753301358	->AGTA	Pathogenic	Frameshift variant, coding sequence variant
rs754702823	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs755616266	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs756389027	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs757139660	G>A	Likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant
rs757722767	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs758195453	C>T	Pathogenic	Stop gained, coding sequence variant
rs758952057	CTC>-	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs759603306	->AT	Pathogenic	Coding sequence variant, frameshift variant
rs760264695	->GTTA	Pathogenic	Coding sequence variant, frameshift variant
rs761071372	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs761292021	CACAGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs763048583	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs764337753	G>A,T	Likely-pathogenic	Splice acceptor variant
rs764503373	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765908556	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs766366221	G>A	Likely-pathogenic	Splice donor variant
rs767513098	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs768759374	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs769219669	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs769291842	->A,GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs769440001	C>T	Pathogenic	Coding sequence variant, stop gained
rs770264966	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs770558150	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs771459937	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs772136379	T>C,G	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs772624348	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs773513360	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs776599992	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs777476179	A>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs778728424	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs779366889	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205526	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205527	A>T	Likely-pathogenic	Splice acceptor variant
rs786205633	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797045228	->A	Pathogenic	Frameshift variant, coding sequence variant
rs878854998	->A	Pathogenic	Frameshift variant, coding sequence variant
rs878855003	->A	Pathogenic	Frameshift variant, coding sequence variant
rs904289501	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs916056435	T>C	Likely-pathogenic	Splice donor variant
rs932538480	TTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs940576720	C>T	Pathogenic	Coding sequence variant, stop gained
rs969786171	C>T	Pathogenic	Stop gained, coding sequence variant
rs989080548	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1034630858	TCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517445	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519133	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060500034	C>GA	Pathogenic	Coding sequence variant, frameshift variant
rs1060500039	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1085307054	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1182262187	AA>A,G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1192396248	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1203193062	TACGTAGAAAAAGG>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1217507627	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1218465638	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1220975714	->TGTCTTTCCAAGATTGGAA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1225343345	GA>-	Pathogenic	Stop gained, coding sequence variant
rs1230351650	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1246023978	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1275113273	C>T	Pathogenic	Coding sequence variant, stop gained
rs1296683633	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1313101326	G>A	Likely-pathogenic	Splice acceptor variant
rs1318520999	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1347176614	T>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1361885101	G>C	Likely-pathogenic	Splice acceptor variant
rs1370417967	ATAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1412574975	A>-,AA	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1425609364	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1426009756	C>T	Pathogenic	Stop gained, coding sequence variant
rs1434010689	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1439541639	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1457500348	TCAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1473611414	C>T	Pathogenic	Coding sequence variant, stop gained
rs1476205467	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1490127694	C>G	Pathogenic	Stop gained, coding sequence variant
rs1553398842	TA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1553399962	->ACTAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400437	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400675	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400709	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400778	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400785	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553400956	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553401634	G>T	Likely-pathogenic	Splice donor variant
rs1553403262	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403282	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403321	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553403401	AGTAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403560	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403585	->CTATTCTGGACTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403598	AA>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403653	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553403656	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403685	TATACCTGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403762	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403851	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403864	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403882	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403917	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553403989	GCCTGTCATTTTCTACCAGCAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404020	->C	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404028	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404066	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404109	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553404150	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404156	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404180	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404220	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553404233	->CCTA	Pathogenic	Frameshift variant, coding sequence variant
rs1553404252	AACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404277	->ACAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404283	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553404305	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404310	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404337	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404358	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404368	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404377	ACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404395	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553404423	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404426	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404457	CT>ATA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404473	->AGGGT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409617	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409656	->AGGTCTTCGAATGCCA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409683	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409686	CCATCACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409691	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409710	AGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409715	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553409764	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409774	CTTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409778	->T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1553409851	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409901	G>T	Likely-pathogenic	Splice donor variant
rs1553412797	->AC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553414071	GTAGTACCAAGATG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553416233	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553416867	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553416872	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553417044	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418449	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418457	->CACATAGAGA	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553418500	TGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418505	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418512	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418513	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418578	GA>-	Pathogenic	Stop gained, coding sequence variant
rs1553418598	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553418609	AATTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553418638	G>A	Likely-pathogenic	Splice donor variant
rs1553421488	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421496	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421626	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421657	T>A	Likely-pathogenic	Splice donor variant
rs1553421725	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553421739	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421741	TACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421752	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421886	CTG>TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553422035	TCCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558639105	G>A	Pathogenic	Stop gained, coding sequence variant
rs1558639213	C>T	Pathogenic	Stop gained, coding sequence variant
rs1558648189	CACA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558648759	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1558651349	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1558651680	C>A	Pathogenic	Stop gained, coding sequence variant
rs1558667882	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558712413	C>T	Pathogenic	Stop gained, coding sequence variant
rs1572911143	T>C	Likely-pathogenic	Splice donor variant
rs1572914641	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572931120	CACTTCTAAAGGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572931360	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1572932377	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572932845	C>T	Pathogenic	Coding sequence variant, stop gained
rs1572933385	CA>-	Pathogenic	Coding sequence variant, stop gained
rs1572934951	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572935708	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1572936092	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572936360	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572936972	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572937636	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572970628	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573000963	->TATT	Pathogenic	Coding sequence variant, frameshift variant
rs1573030204	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573052379	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573053394	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1573053412	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004192	hsa-miR-197-3p	Microarray	16822819
MIRT019997	hsa-miR-375	Microarray	20215506
MIRT031049	hsa-miR-21-5p	Microarray	18591254
MIRT050457	hsa-miR-22-3p	CLASH	23622248
MIRT049216	hsa-miR-92a-3p	CLASH	23622248
MIRT038525	hsa-miR-99b-3p	CLASH	23622248
MIRT441233	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441233	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	31413325, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	15855349, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	20844083
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016197	Process	Endosomal transport	IMP	22693585
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0046599	Process	Regulation of centriole replication	IBA
GO:0051492	Process	Regulation of stress fiber assembly	IMP	22693585
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27803297

Other IDs

• MIM: 606844
• HGNC: 428
• e!Ensembl: ENSG00000116127

Protein

• UniProt ID: Q8TCU4
• Protein name: Centrosome-associated protein ALMS1 (Alstrom syndrome protein 1)
• Protein function: Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based st
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18727	ALMS_repeat	539 → 585	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	586 → 632	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	633 → 679	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	680 → 726	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	727 → 774	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	775 → 821	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	822 → 871	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	872 → 918	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	919 → 965	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	966 → 1013	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1014 → 1060	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1061 → 1107	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1108 → 1155	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1156 → 1202	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1203 → 1249	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1250 → 1297	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1298 → 1344	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1345 → 1392	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1393 → 1439	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1440 → 1486	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1487 → 1534	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1535 → 1581	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1582 → 1628	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1629 → 1675	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1676 → 1722	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1723 → 1769	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1770 → 1816	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1817 → 1861	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1862 → 1906	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1907 → 1951	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1952 → 1996	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	1993 → 2028	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	2059 → 2105	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	2106 → 2152	Alstrom syndrome repeat	Repeat
  PF18727	ALMS_repeat	2153 → 2199	Alstrom syndrome repeat	Repeat
  PF15309	ALMS_motif	4032 → 4164	ALMS motif	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level). {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}.
• Sequence:

  MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEAGRELDSDSHY
  GPQHLESIDDEEDEEAKAWLQAHPGRILPPLSPPQHRYSEGERTSLEKIVPLTCHVWQQI
  VYQGNSRTQISDTNVVCLETTAQRGSGDDQKTESWHCLPQEMDSSQTLDTSQTRFNVRTE
  DTEVTDFPSLEEGILTQSENQVKEPNRDLFCSPLLVIQDSFASPDLPLLTCLTQDQEFAP
  DSLFHQSELSFAPLRGIPDKSEDTEWSSRPSEVSEALFQATAEVASDLASSRFSVSQHPL
  IGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKTRKDTQWPENN
  LADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQEDSSKQAETYLTKGLQGKVE
  SDVITLDGLNENAVVCSERVAELQRKPTRESEYHSSDLRMLRMSPDTVPKAPKHLKAGDT
  SKGGIAKVTQSNLKSGITTTPVDSDIGSHLSLSLEDLSQLAVSSPLETTTGQHTDTLNQK
  TLADTHLTEETLKVTAIPEPADQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALK
  VSAAPGLADQTTGMSTLTSTSYSHREKPGTFYQQELPESNLTEEPLEVSAAPGPVEQKTG
  IPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGPADQKTGTATVLSTPHSHRE
  KPGIFYQQEFADSHQTEETLTKVSATPGPADQKTEIPAVQSSSYSQREKPSILYPQDLAD
  SHLPEEGLKVSAVAGPADQKTGLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAV
  SGPADGKTGTPAVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGI
  PSAPSSFYSHREKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVSSNSHSHSEK
  SSVFYQQELPDSDLPRESLKMSAIPGLTDQKTVPTPTVPSGSFSHREKPSIFYQQEWPDS
  YATEKALKVSTGPGPADQKTEIPAVQSSSYPQREKPSVLYPQVLSDSHLPEESLKVSAFP
  GPADQMTDTPAVPSTFYSQREKPGIFYQQTLPESHLPKEALKISVAPGLADQKTGTPTVT
  STSYSQHREKPSIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTFYSQREKPGI
  FYQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQVLPDNHPTE
  EALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSLPSSHLTEEAKNVSAVPGPA
  DQKTVIPILPSTFYSHTEKPGVFYQQVLPHSHPTEEALKISVASEPVDQTTGTPTVTSTS
  YSQHTEKPSIFYQQSLPGSHLTEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQ
  QVLPHSHLPEEALEVSVAPGPVDQTIGTPTVTSPSSSFGEKPIVIYKQAFPEGHLPEESL
  KVSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGSQIPEEALRVSSAPGPADQT
  TGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVSGPTEKKTDIPAGPLGSSAL
  GEKPITFYRQALLDSPLNKEVVKVSAAPGPADQKTETLPVHSTSYSNRGKPVIFYQQTLS
  DSHLPEEALKVPPVPGPDAQKTETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSA
  VPQPADQKTGLSTVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVST
  VTSTSYSHREKPIVSYQRELPHFTEAGLKILRVPGPADQKTGINILPSNSYPQREHSVIS
  YEQELPDLTEVTLKAIGVPGPADQKTGIQIASSSSYSNREKASIFHQQELPDVTEEALNV
  FVVPGQGDRKTEIPTVPLSYYSRREKPSVISQQELPDSHLTEEALKVSPVSIPAEQKTGI
  PIGLSSSYSHSHKEKLKISTVHIPDDQKTEFPAATLSSYSQIEKPKISTVIGPNDQKTPS
  QTAFHSSYSQTVKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREK
  SNIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIFYQKDLPDRH
  LTEDALKISSALGQADQITGLQTVPSGTYSHGENHKLVSEHVQRLIDNLNSSDSSVSSNN
  VLLNSQADDRVVINKPESAGFRDVGSEEIQDAENSAKTLKEIRTLLMEAENMALKRCNFP
  APLARFRDISDISFIQSKKVVCFKEPSSTGVSNGDLLHRQPFTEESPSSRCIQKDIGTQT
  NLKCRRGIENWEFISSTTVRSPLQEAESKVSMALEETLRQYQAAKSVMRSEPEGCSGTIG
  NKIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVSPKTSITDSR
  EEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILRNAEEEESRVRAHAWNMKFN
  LAHDCGYSISELNEDDRRKVEEIKAELFGHGRTTDLSKGLQSPRGMGCKPEAVCSHIIIE
  SHEKGCFRTLTSEHPQLDRHPCAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHF
  KVWNSLQLKSHSPFQNFIPDEFKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSS
  QMPSPEPMKKFTTSITFSSHRHSKCISNSSVVKVGVTEGSQCTGASVGVFNSHFTEEQNP
  PRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVDFERSFQEEKPLERSDFTGS
  HSEPSTRANCSNFKEIQISDNHTLISMGRPSSTLGVNRSSSRLGVKEKNVTITPDLPSCI
  FLEQRELFEQSKAPRADDHVRKHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDH
  QMRENHSPLPQGQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQ
  HKPKSHISNINVEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITLCPKTSSKLD
  SGTLDERFHSLDAASKARMNSEFNFDLHTVSSRSLEPTSKLLTSKPVAQDQESLGFLGPK
  SSLDFQVVQPSLPDSNTITQDLKTIPSQNSQIVTSRQIQVNISDFEGHSNPEGTPVFADR
  LPEKMKTPLSAFSEKLSSDAVTQITTESPEKTLFSSEIFINAEDRGHEIIEPGNQKLRKA
  PVKFASSSSVQQVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDSKSDTTVESS
  HSGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGEKPLQNENAD
  ASVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQKDTADSSAAAAAEHSAQVGD
  PEMKNLPDTKAITQKEEIHRKKTVPEEAWPNNKESLQINIEESECHSEFENTTRSVFRSA
  KFYIHHPVHLPSDQDICHESLGKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKT
  DYTRIKSLSINVNLGNKEVMDTTKSQVRDYPKHNGQISDPQRDQKVTPEQTTQHTVSLNE
  LWNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPITHSLQVSESTHDDSRGERSV
  KEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHHRAGRSNQIKIEQIKFDKYI
  LSKQPGFNYISNTSSDCRPSEESELLTDTTTNILSGTTSTVESDILTQTDREVALHERSS
  SVSTIDTARLIQAFGHERVCLSPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTS
  EHTRRRHIQVANHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKK
  HTRDVGITFPTPSSSEAKLEENSDVTSWSEEKREEKMLFTGYPEDRKLKKNKKNSHEGVS
  WFVPVENVESRSKKENVPNTCGPGISWFEPITKTRPWREPLREQNCQGQHLDGRGYLAGP
  GREAGRDLLRPFVRATLQESLQFHRPDFISRSGERIKRLKLIVQERKLQSMLQTERDALF
  NIDRERQGHQNRMCPLPKRVFLAIQKNKPISKKEMIQRSKRIYEQLPEVQKKREEEKRKS
  EYKSYRLRAQLYKKRVTNQLLGRKVPWD

• Sequence length: 4168

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of the eye	Pathogenic	rs2103791192	RCV001814434
ALMS1-related disorder	Likely pathogenic; Pathogenic	rs758016217, rs2466112542, rs2466445896, rs2466097572, rs2104104085, rs761292021, rs1412574975	RCV003417032 RCV003412420 RCV003416677 RCV003403024 RCV003414263 RCV003938021 RCV004740403 RCV004726870
Alstrom syndrome	Pathogenic; Likely pathogenic	rs568037602, rs1181992959, rs2103787360, rs2104189157, rs1671310097, rs2103734661, rs2104058704, rs1169223296, rs757131983, rs2104060044, rs2103701996, rs2103714765, rs2103734325, rs2103771067, rs2103772743, rs190439406, rs752875933, rs2103774323, rs1271517550, rs761177629, rs1671880172, rs2103777336, rs2103779248, rs2103781518, rs2103781864, rs2103783763, rs2103783797, rs2103787540, rs1671971721, rs2103790479, rs2103790992, rs761713440, rs373586405, rs1572939837, rs2103890652, rs776563011, rs917667192, rs1273296127, rs1573000972, rs1255779642, rs2104104189, rs2104104427, rs192823093, rs2104108070, rs2104188943, rs1290800821, rs765718672, rs758732551, rs2104195495, rs1675708936, rs1675625092, rs2103771766, rs2103892164, rs2103892422, rs2103780942, rs773971557, rs1250097723, rs1247974278, rs1671340542, rs780843883, rs2103785835, rs771994237, rs974309886, rs2104105065, rs2104194220, rs2103779035, rs769160407, rs916056435, rs2103779399, rs1574423810, rs1675739925, rs1263250868, rs766323360, rs747355678, rs1558649531, rs2103891827, rs765764128, rs1271250182, rs2103734375, rs1671899045, rs2103890894, rs2103771218, rs2103772444, rs1675685953, rs1558650438, rs1238145717, rs1314034889, rs1558667813, rs2103772104, rs2103775505, rs2103770992, rs2103895650, rs1332287946, rs756345976, rs2103777026, rs2103786025, rs2104188795, rs2103701730, rs2103776149, rs2103895390, rs2103773428, rs2103780806, rs2103787808, rs777080769, rs2103776873, rs2104106303, rs2103781901, rs2103787249, rs745461983, rs2103778657, rs201154998, rs2103791934, rs1269948810, rs2104202909, rs2103791083, rs368412850, rs1673996095, rs2103895712, rs2104105041, rs2103790206, rs2103787916, rs2103781095, rs2104196326, rs779928593, rs2103780952, rs750737346, rs2103777652, rs1285425883, rs2103891188, rs2103777482, rs2104063527, rs1672009270, rs779187578, rs2103720605, rs758678450, rs2104195295, rs2103894102, rs2103791069, rs1439452693, rs2104057987, rs748621056, rs2104104628, rs1307785790, rs1195572987, rs2103892558, rs2104103586, rs2103771168, rs200930613, rs2103782122, rs1302255267, rs2103893595, rs956247442, rs2103893216, rs2103780610, rs780622565, rs2103889832, rs1438410766, rs2103778961, rs1200012970, rs765553310, rs1572911143, rs2103734574, rs2104105305, rs2104216032, rs1671989236, rs2103780557, rs2103889249, rs2103893636, rs2104203068, rs2103720460, rs2104063719, rs2103961819, rs2103774725, rs2103785778, rs2103794046, rs2104106546, rs2103789120, rs1675709881, rs2103782701, rs1348039836, rs2466097334, rs79893082, rs2466516478, rs2466102505, rs2466095122, rs2466219039, rs2466046617, rs2466099992, rs2466444591, rs2466220765, rs377366300, rs2466105724, rs1228270049, rs886038614, rs1390696376, rs745337805, rs2466106080, rs2466108287, rs2466402610, rs2466104326, rs2466053037, rs982144870, rs2466215745, rs757177003, rs2466101228, rs2466099392, rs1203221115, rs2466107330, rs2466103413, rs2466108210, rs2466115526, rs2103788334, rs1671237172, rs2466099694, rs2466219921, rs770529318, rs2466046577, rs2466101388, rs2466445473, rs2466053151, rs2466522425, rs1671874854, rs2466212471, rs2466445042, rs1675711858, rs1231670313, rs779574582, rs1674604459, rs1490127694, rs2466094345, rs1398812622, rs1411820884, rs2466109263, rs2466110589, rs1467749660, rs1467207143, rs2466106587, rs886056307, rs2466340239, rs2103889971, rs376834704, rs2466035962, rs2466104220, rs1179374287, rs1558647785, rs1371488235, rs786205527, rs2466107635, rs2104104085, rs193919338, rs387906312, rs387906313, rs193919339, rs193919340, rs540547127, rs2466092307, rs755944454, rs2466213874, rs2466218463, rs773750204, rs1480809832, rs763850684, rs2466214814, rs1671239582, rs2466108740, rs1256944195, rs2103784887, rs746546834, rs1671946886, rs2466096633, rs2466062942, rs2466106782, rs1558711346, rs771459937, rs755927504, rs1162425274, rs2466016534, rs1170410040, rs1215015585, rs2466444966, rs2466304058, rs906758153, rs2466099788, rs2466105501, rs797045228, rs770558150, rs772624348, rs2466215388, rs2466448279, rs2466526494, rs1310777713, rs1230351650, rs1185658160, rs2466036345, rs2466091383, rs2466104360, rs2466526986, rs2466099885, rs769842211, rs2466403086, rs757852651, rs2466304186, rs2466213478, rs2466214267, rs2466106666, rs2466108557, rs2466104633, rs1670504473, rs772136379, rs2104199857, rs774724720, rs2466101333, rs2466101288, rs45484791, rs2466092302, rs1216373008, rs764559444, rs376719320, rs1200296507, rs1331043174, rs1242023655, rs759021934, rs1385395822, rs2466099658, rs2466408583, rs2466092881, rs2466385968, rs772164111, rs2466098663, rs2466047383, rs2466443292, rs1060500039, rs2103777457, rs1671350045, rs2466215789, rs779182344, rs1670037662, rs2466096436, rs1347176614, rs2466215433, rs2466540845, rs1674958525, rs2466096352, rs145953016, rs2466522819, rs2466094878, rs539612316, rs1085307054, rs878854998, rs878855003, rs2466220020, rs2466100644, rs2466047422, rs2466099194, rs2465969801, rs769219669, rs367877017, rs1457913004, rs2466216995, rs1281013806, rs2466446965, rs2466302978, rs2466102995, rs2466213585, rs2466529587, rs2466443044, rs2466046580, rs2466099139, rs1361923069, rs2466303019, rs2466109981, rs2466091646, rs2466106791, rs2466444538, rs2466444235, rs2466340437, rs2466540891, rs2466094001, rs2466115753, rs2466111790, rs2466110939, rs975308906, rs2466214029, rs753835568, rs2466095459, rs778724795, rs775149898, rs768816557, rs768999961, rs2466212433, rs2466520729, rs1558712349, rs2466095260, rs2466540816, rs1174023229, rs2466212358, rs2466216835, rs2466385686, rs2466106228, rs771301027, rs2103701341, rs2466102298, rs2466107252, rs2466444847, rs2466219130, rs2466106355, rs2466045771, rs2466110362, rs2465970805, rs2466092629, rs2466214414, rs2466109511, rs2466519743, rs2466095962, rs1671869827, rs2466303417, rs2466304011, rs2466526261, rs2466215227, rs2466099701, rs768037558, rs2466216987, rs780066739, rs2466106564, rs2466516085, rs2466519615, rs373979607, rs2103786356, rs2466443694, rs1313101326, rs2466094592, rs2466105042, rs754108525, rs2466110974, rs2466520056, rs2466108824, rs2466445680, rs745677541, rs2466036415, rs777273518, rs2466220962, rs2466402650, rs2466047361, rs2466095271, rs2466036616, rs2466446440, rs2466045930, rs2466448042, rs2466094627, rs2466445112, rs2465971353, rs2466091915, rs2466092491, rs2466091306, rs1396843820, rs2466529554, rs1412045635, rs2466444822, rs2466105917, rs2465971490, rs2466063041, rs1671859807, rs1674402990, rs2466106273, rs1671859674, rs1671983691, rs2466096040, rs2465971495, rs773650701, rs2466106833, rs2466097825, rs2466106443, rs2466522732, rs1671876471, rs2466408692, rs1572914269, rs2104106148, rs374681570, rs2466036341, rs774835325, rs1674974639, rs2466097919, rs2466099623, rs1348620586, rs2466106332, rs2466046164, rs1057517445, rs777476179, rs1060500034, rs753301358, rs769440001, rs1034630858, rs1473611414, rs1553403917, rs1553403653, rs1425609364, rs1203193062, rs1553404310, rs1553416872, rs969786171, rs1246023978, rs1553418609, rs1275113273, rs1553403321, rs773513360, rs1192396248, rs1553421725, rs397514576, rs759603306, rs549857076, rs904289501, rs1439541639, rs750136202, rs1553404220, rs1417025395, rs1318520999, rs750326619, rs989080548, rs764503373, rs1553396092, rs1340135231, rs1553396098, rs755760721, rs1553396238, rs1553396293, rs1553403401, rs1553403560, rs1553400437, rs1553403598, rs1553396088, rs1553400675, rs1553403685, rs1296683633, rs1553404066, rs1553396296, rs1553401634, rs1553398842, rs1553404180, rs1553403282, rs748892226, rs758952057, rs1553400709, rs761071372, rs1553396091, rs1553400778, rs1553404457, rs1225343345, rs1553404473, rs1553403262, rs751804613, rs769291842, rs1457500348, rs1553403882, rs1553409686, rs1553409691, rs778728424, rs761292021, rs1553400956, rs1553409764, rs1553404020, rs779366889, rs1553409778, rs1553403989, rs1553404109, rs1553404252, rs1553404028, rs770264966, rs1553404305, rs1553404150, rs1553404156, rs1553403656, rs754702823, rs1553403762, rs1553404283, rs1553403851, rs1553404337, rs1553409683, rs1553403864, rs1553416867, rs1553417044, rs1553404358, rs1553404277, rs1553409715, rs1553404368, rs1553404377, rs1220975714, rs1553404426, rs1553418457, rs1553418500, rs1553418512, rs1370417967, rs1553404423, rs1217507627, rs1553409656, rs1553409710, rs1553421488, rs1553421496, rs1361885101, rs1553409774, rs757722767, rs1553409617, rs766366221, rs1553409901, rs1553421657, rs1553414071, rs1553416233, rs1553418449, rs375019820, rs1553421752, rs1553409851, rs1553421886, rs1218465638, rs755616266, rs1553412797, rs768759374, rs1553418513, rs1476205467, rs1553418638, rs932538480, rs1553418505, rs1412574975, rs1553421626, rs747272625, rs1553421739, rs760264695, rs1553422035, rs1553421741, rs1553404233, rs1553404395, rs563393715, rs1558651349, rs1558667882, rs1558648189, rs1558648759, rs940576720, rs1572935708, rs1574423697, rs1254495717, rs1572932377, rs369314182, rs763048583, rs765908556, rs1573000963, rs1573030204, rs776599992, rs1573052379, rs1573053412, rs1572936972, rs1573053394, rs756389027, rs758195453, rs1434010689, rs1572970628, rs1572937636, rs1248541208, rs1426009756, rs1572936360, rs768751472, rs1672934629, rs1572914641, rs1572932845, rs1572936092, rs1182262187, rs1572931120, rs1572931360, rs1671239143, rs1671240457, rs1490504758, rs1359874667, rs1671883598, rs758098717, rs1198051503, rs1303829798, rs1672976991, rs754690894, rs1372103295, rs1675623302, rs1174712970, rs1673992163, rs1394193524, rs1270472063, rs1205704532, rs774594040, rs748709116, rs749339938, rs1315351235, rs541559170, rs1674967197, rs376091780, rs1322100078, rs759024519, rs28730854, rs1671885850, rs1674946144, rs1671880064, rs1672957185, rs1674968936, rs1392057115, rs115444326, rs757152182, rs1671890891, rs1671971419, rs1671974033, rs1674604760, rs1671019928, rs759788656, rs1671017057, rs1671885188, rs1671886193, rs1208636696, rs1674975219, rs747747269, rs1675665426, rs868776324, rs1671915447, rs1671343808, rs1558642193, rs1671856137, rs1671859372, rs1671863469, rs201853697, rs1671876151, rs1553403585, rs1671883188, rs1671897788, rs1671941012, rs533606326, rs376244626, rs1672964092, rs1163532771, rs780438592, rs780252175, rs1675682743, rs1675622361, rs1671852270, rs398122991, rs398122992, rs398122993, rs398122994, rs398122995, rs1572933082, rs1671951264	RCV001335703 RCV001375482 RCV001376207 RCV001376523 RCV001379006 RCV001378042 RCV001382727 RCV001389560 RCV001384370 RCV001385298 RCV001386184 RCV001383595 RCV001381078 RCV001383106 RCV001380893 RCV001381071 RCV001384848 RCV001382728 RCV001385411 RCV001384822 RCV001380460 RCV001388017 RCV001385234 RCV001384451 RCV001384452 RCV001384453 RCV001386763 RCV001387415 RCV001389851 RCV001380586 RCV001387592 RCV001386970 RCV001386398 RCV001380127 RCV001384630 RCV001384454 RCV001382588 RCV001389061 RCV001390728 RCV001384456 RCV001384455 RCV001386725 RCV001384457 RCV001387862 RCV001386779 RCV001389803 RCV001389531 RCV001386860 RCV001388330 RCV001386194 RCV001420808 RCV001449737 RCV001530180 RCV001530481 RCV001832751 RCV001553710 RCV001866158 RCV001827532 RCV002227532 RCV001728015 RCV001728021 RCV002496060 RCV002032733 RCV001783416 RCV001783419 RCV001808222 RCV001869791 RCV001844677 RCV002034253 RCV002018989 RCV001934262 RCV001923395 RCV001865001 RCV001907210 RCV001928369 RCV001994572 RCV001999883 RCV001994595 RCV001933422 RCV001994206 RCV001950321 RCV001938234 RCV001950787 RCV001970128 RCV001946737 RCV001946781 RCV001979175 RCV001981746 RCV001905142 RCV001950216 RCV001949248 RCV001949302 RCV001891078 RCV002005086 RCV001929912 RCV001958906 RCV001963024 RCV001963046 RCV001958956 RCV001896169 RCV001910729 RCV001989962 RCV001919966 RCV001929052 RCV002040058 RCV001892321 RCV001916985 RCV002012248 RCV001887246 RCV001891478 RCV002035336 RCV001993322 RCV001922629 RCV001926991 RCV001994734 RCV001994765 RCV002002442 RCV002035291 RCV002000002 RCV002037780 RCV002037807 RCV001993383 RCV002035505 RCV001942169 RCV001872991 RCV001933606 RCV001939541 RCV001924687 RCV001942968 RCV001918866 RCV001931192 RCV001939338 RCV001941566 RCV002037586 RCV002041589 RCV001946915 RCV001972498 RCV001913033 RCV001951050 RCV001946851 RCV001951180 RCV001950377 RCV001936057 RCV001958592 RCV001958642 RCV001970057 RCV001952569 RCV001948543 RCV001909022 RCV001925406 RCV001949365 RCV001956227 RCV002000964 RCV001939148 RCV001888235 RCV001948603 RCV001983008 RCV002049361 RCV002047513 RCV001883877 RCV001918401 RCV001941203 RCV001963079 RCV002018638 RCV001958258 RCV001956532 RCV002048216 RCV001881053 RCV001881220 RCV001984680 RCV001922000 RCV002021811 RCV001948815 RCV001962828 RCV001948734 RCV002221993 RCV002222889 RCV002249247 RCV002251053 RCV002251168 RCV003992621 RCV002274812 RCV003107987 RCV003096185 RCV003107989 RCV003107990 RCV003107991 RCV002306457 RCV002306475 RCV002306707 RCV002306783 RCV002306792 RCV002306811 RCV002309553 RCV002309566 RCV002309640 RCV002309657 RCV002309735 RCV002309844 RCV002309848 RCV002309849 RCV002309970 RCV002310006 RCV002310043 RCV002310063 RCV002307883 RCV002308310 RCV002308322 RCV002308363 RCV002309023 RCV002309208 RCV002309246 RCV002309346 RCV002309358 RCV002309484 RCV002309487 RCV002309514 RCV002306936 RCV002306962 RCV002307018 RCV002307188 RCV002307275 RCV002307282 RCV002307286 RCV002310087 RCV002310122 RCV002310141 RCV002310164 RCV002310185 RCV002310252 RCV002310259 RCV002310273 RCV002310310 RCV002310367 RCV002310405 RCV002310422 RCV002310433 RCV002310463 RCV002310468 RCV002310511 RCV002310541 RCV002310550 RCV002310576 RCV002308420 RCV003094749 RCV003096650 RCV003502684 RCV003064915 RCV003085748 RCV002516556 RCV003072768 RCV000004175 RCV000004176 RCV000004177 RCV000004178 RCV000004180 RCV000004181 RCV002587913 RCV002651482 RCV002651483 RCV002651485 RCV002664243 RCV002634379 RCV002612261 RCV002644522 RCV002510385 RCV003121291 RCV002635268 RCV002630828 RCV002649976 RCV002659491 RCV002710764 RCV002736772 RCV002746091 RCV002726657 RCV002726661 RCV002794977 RCV002761722 RCV002741731 RCV002825145 RCV002816213 RCV002824668 RCV002856963 RCV002833827 RCV002838901 RCV002838903 RCV002837691 RCV000194605 RCV000194023 RCV000192879 RCV002830217 RCV002825620 RCV002825623 RCV002834330 RCV002857089 RCV002861832 RCV002862442 RCV002858339 RCV002889549 RCV002880879 RCV002881448 RCV002853314 RCV002853419 RCV002866555 RCV002847194 RCV002848245 RCV002848246 RCV002893955 RCV002899021 RCV002871425 RCV002889643 RCV002867716 RCV000192391 RCV002867752 RCV002894450 RCV002881854 RCV002913535 RCV002913544 RCV002909969 RCV002927712 RCV002966654 RCV002942529 RCV002949040 RCV003017885 RCV002979168 RCV003010335 RCV003013886 RCV003021725 RCV003000161 RCV003031010 RCV003017647 RCV003024045 RCV003032486 RCV003029358 RCV003019441 RCV003026968 RCV003032208 RCV003055523 RCV003043358 RCV003043381 RCV003054291 RCV003057384 RCV003046880 RCV003056035 RCV003056056 RCV003044737 RCV003036665 RCV003056296 RCV003041006 RCV003040716 RCV000210366 RCV000490468 RCV000229272 RCV000233354 RCV003134990 RCV003134992 RCV003146969 RCV003148289 RCV003609261 RCV001854999 RCV000672084 RCV003231049 RCV003777124 RCV005102739 RCV003314505 RCV003335826 RCV003338202 RCV003338922 RCV003502728 RCV003447864 RCV003447877 RCV003486301 RCV003486508 RCV003502778 RCV003502766 RCV003502964 RCV003503514 RCV003503677 RCV003503912 RCV003503618 RCV003503627 RCV003503703 RCV003504096 RCV003504090 RCV003504443 RCV003504208 RCV003504262 RCV003502250 RCV003504506 RCV003504508 RCV003504509 RCV003504510 RCV003504511 RCV003504512 RCV003504513 RCV003504514 RCV003504515 RCV003502234 RCV003502237 RCV003502112 RCV003502335 RCV003502320 RCV003503158 RCV003502480 RCV003502989 RCV003503094 RCV003503140 RCV003502472 RCV003503128 RCV003503220 RCV003502969 RCV003503031 RCV003503033 RCV003503115 RCV003504048 RCV003503310 RCV003504079 RCV003503333 RCV003503374 RCV003504008 RCV003504051 RCV003609357 RCV003609415 RCV003609470 RCV003609452 RCV003609616 RCV003610187 RCV003610179 RCV003610107 RCV003610139 RCV003610159 RCV003610219 RCV003610236 RCV003610318 RCV003610336 RCV003610417 RCV003610265 RCV003610273 RCV003608671 RCV003610487 RCV003608698 RCV003608779 RCV003608800 RCV003610478 RCV003610480 RCV003608690 RCV003608739 RCV003608744 RCV003608685 RCV003608711 RCV003608817 RCV003608862 RCV003608829 RCV003608972 RCV003608820 RCV003608927 RCV003608945 RCV003609058 RCV003609025 RCV003609084 RCV003609107 RCV003609127 RCV003609023 RCV003609100 RCV003609141 RCV003610592 RCV003610614 RCV003610633 RCV003610680 RCV003610584 RCV003609921 RCV003609913 RCV003818681 RCV003828817 RCV003839404 RCV003836139 RCV003835538 RCV003830990 RCV003844940 RCV003841346 RCV003866836 RCV003865896 RCV003875381 RCV003871907 RCV003878389 RCV003876737 RCV003876854 RCV003875051 RCV003990123 RCV004555530 RCV004576151 RCV004576156 RCV004577263 RCV000409996 RCV000668033 RCV000664556 RCV000472278 RCV000459403 RCV000458040 RCV000463457 RCV000503357 RCV000503366 RCV000625525 RCV000505220 RCV000505248 RCV000672935 RCV000984143 RCV001199640 RCV000548073 RCV000534085 RCV000558405 RCV000537166 RCV000528709 RCV000578023 RCV000984142 RCV001219856 RCV000032964 RCV000634805 RCV000634797 RCV000634809 RCV000634779 RCV000634810 RCV000634808 RCV000656410 RCV000656411 RCV000672767 RCV000671658 RCV000673302 RCV000670265 RCV000674246 RCV000668238 RCV000671016 RCV000674352 RCV000667478 RCV000669532 RCV000672921 RCV000669877 RCV000672248 RCV000669433 RCV000672691 RCV000673931 RCV000666820 RCV000667013 RCV000672713 RCV000672541 RCV000673674 RCV000670021 RCV000672067 RCV000671260 RCV000669733 RCV000674581 RCV000669768 RCV000670616 RCV000666768 RCV000666338 RCV000669943 RCV000665351 RCV000672109 RCV000674003 RCV000666261 RCV000665317 RCV000667941 RCV000670471 RCV000664590 RCV000667302 RCV000673152 RCV000673720 RCV000671518 RCV000671338 RCV000669519 RCV000668968 RCV000664658 RCV000668208 RCV000670447 RCV000665275 RCV000673178 RCV000670458 RCV000668222 RCV000669693 RCV000671949 RCV000672423 RCV000672773 RCV000672346 RCV000665297 RCV000673886 RCV000666481 RCV000669582 RCV000672943 RCV000674139 RCV000671250 RCV000672391 RCV000669444 RCV000669676 RCV000665714 RCV000664916 RCV000666693 RCV000671271 RCV000668356 RCV000672208 RCV000668873 RCV000665783 RCV000672392 RCV000674469 RCV000669649 RCV000668201 RCV000667460 RCV000671792 RCV000672319 RCV000673290 RCV000667643 RCV000668098 RCV000665005 RCV000671023 RCV000673328 RCV000668030 RCV000670386 RCV000674484 RCV000673878 RCV000667143 RCV000666520 RCV000670664 RCV000671305 RCV000672673 RCV000672092 RCV000667663 RCV000674118 RCV000666522 RCV000667595 RCV000669201 RCV000672617 RCV000673624 RCV000673363 RCV000673069 RCV000664628 RCV000665643 RCV000672685 RCV000671240 RCV000665420 RCV000667123 RCV000671249 RCV000667556 RCV000677685 RCV000677686 RCV000707419 RCV000707603 RCV000686028 RCV000723304 RCV000735878 RCV001061071 RCV000791278 RCV000809000 RCV000818487 RCV000811674 RCV000802935 RCV000800812 RCV000820227 RCV000816606 RCV000817208 RCV000821947 RCV000807824 RCV000816326 RCV000799882 RCV000817160 RCV000853355 RCV000853354 RCV000986772 RCV000986773 RCV000986775 RCV000986776 RCV000991364 RCV001095370 RCV001858855 RCV001389287 RCV001002868 RCV001199642 RCV001199643 RCV001860587 RCV001860585 RCV003155336 RCV002497333 RCV001029848 RCV001029774 RCV001039891 RCV001059830 RCV001070227 RCV001067735 RCV001056417 RCV001045095 RCV001064588 RCV001053606 RCV001036275 RCV001050007 RCV001036822 RCV001051876 RCV001053482 RCV001060831 RCV001051018 RCV001387181 RCV005093401 RCV002554760 RCV001211998 RCV001862613 RCV001217468 RCV005093406 RCV001387842 RCV001862501 RCV001222044 RCV001257320 RCV002489732 RCV001230120 RCV001175181 RCV001175182 RCV001197831 RCV001219122 RCV001215765 RCV001222508 RCV001204779 RCV001206802 RCV001210020 RCV001204166 RCV001205824 RCV001205735 RCV001204874 RCV001205765 RCV001201575 RCV001231719 RCV001227215 RCV001233211 RCV001232541 RCV001238178 RCV001237347 RCV001246836 RCV001245791 RCV001235762 RCV001251283 RCV001253227 RCV001255887 RCV001255890 RCV001255891 RCV001255892 RCV001255893 RCV001255894 RCV001255906 RCV001255895 RCV001255904 RCV001255896 RCV001255903 RCV001255898 RCV001255899 RCV001255901 RCV001255900 RCV001255907 RCV001255905 RCV001255910 RCV001255909 RCV001269241 RCV000210448 RCV000210462 RCV000210469 RCV000210449 RCV000210460 RCV001293389 RCV001293388
Bardet-Biedl syndrome	Pathogenic; Likely pathogenic	rs387906312, rs2466101466, rs1473611414, rs747747269, rs1672034468	RCV005624668 RCV003222509 RCV003222006 RCV005626365 RCV001328236
Cardiomyopathy	Pathogenic	rs398122995	RCV005624321
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2104058704, rs2104104189, rs2104104427, rs2103785835, rs771994237, rs974309886, rs2104063527, rs780622565, rs2103961819, rs2103774725, rs2466519774, rs2466098540, rs1553418638, rs2466035962, rs955424750, rs2466104220, rs2466216889, rs1553409691, rs2466096319, rs1179374287, rs387906312, rs540547127, rs2466218463, rs773750204, rs755927504, rs772624348, rs772136379, rs376719320, rs2466115606, rs539612316, rs2465969801, rs1457913004, rs2466216995, rs1281013806, rs2466529587, rs1558712349, rs2466099701, rs2466093899, rs777476179, rs1034630858, rs1203193062, rs1192396248, rs750326619, rs1296683633, rs1553401634, rs1230351650, rs1553403262, rs751804613, rs769291842, rs761292021, rs1553404283, rs1553416867, rs1553404358, rs1553409715, rs1220975714, rs1370417967, rs1553409710, rs1553421496, rs1553421886, rs1218465638, rs1476205467, rs932538480, rs747272625, rs760264695, rs940576720, rs1490127694, rs776599992, rs758195453, rs1198051503, rs1205704532, rs748709116, rs749339938, rs376091780, rs759024519, rs28730854, rs1392057115, rs115444326, rs759788656, rs747747269, rs376244626, rs780252175, rs398122993	RCV003382566 RCV002404899 RCV002413916 RCV003298956 RCV002361009 RCV003365442 RCV003299030 RCV004631757 RCV004996136 RCV006357376 RCV002328070 RCV002459368 RCV002363939 RCV002340115 RCV002333182 RCV002338632 RCV002371230 RCV002421404 RCV002440083 RCV005585153 RCV004018550 RCV005587339 RCV004072131 RCV004072132 RCV005343490 RCV002399711 RCV002336519 RCV004067256 RCV004085312 RCV002433919 RCV003171643 RCV003294660 RCV003305762 RCV003310829 RCV003382170 RCV005335813 RCV005854533 RCV004521777 RCV002402110 RCV004992288 RCV002395256 RCV004629241 RCV003163069 RCV004629286 RCV002388181 RCV002440414 RCV003380665 RCV002460103 RCV002424572 RCV004026124 RCV006342460 RCV004026123 RCV004026109 RCV002440409 RCV005582383 RCV002386150 RCV005582381 RCV002331309 RCV004993930 RCV003380668 RCV002369802 RCV004026134 RCV004026086 RCV002325338 RCV002458368 RCV004629350 RCV005338375 RCV002445145 RCV002379588 RCV005348309 RCV002339360 RCV003293870 RCV005851707 RCV002348551 RCV002365792 RCV004033626 RCV002418690 RCV002365901 RCV002451604 RCV004035356 RCV003382492 RCV005851506
Cone-rod dystrophy	Pathogenic	rs1426009756	RCV002267747
Hearing impairment	Likely pathogenic; Pathogenic	rs2104056063, rs777476179	RCV001375251 RCV001003950
Hepatocellular carcinoma	Likely pathogenic	rs759788656	RCV005908964
Intellectual disability	Pathogenic	rs758098717	RCV001532997
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs2103889898, rs2103781993, rs2103778571, rs1250097723, rs2103793713, rs1188328539, rs1671883598	RCV001526708 RCV001591897 RCV001591898 RCV001591899 RCV001591901 RCV001591902 RCV005418974
Leukodystrophy	Likely pathogenic; Pathogenic	rs777476179	RCV001003950
Lung cancer	Pathogenic	rs539612316	RCV005893841
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2103892422, rs780843883, rs387906312, rs797045228, rs770558150, rs772624348, rs367877017, rs1473611414, rs1553403585, rs1225343345, rs761292021, rs754702823, rs1553409710, rs1476205467, rs1553421626, rs1270472063, rs1205704532, rs1671925979, rs774594040, rs748709116, rs749339938, rs1315351235, rs541559170, rs1672973685, rs1674967197, rs1412574975, rs376091780, rs376244626, rs398122991	RCV004815561 RCV004815607 RCV001075440 RCV004816322 RCV001073778 RCV004816321 RCV004816472 RCV004817720 RCV000504820 RCV001074117 RCV001074661 RCV001074098 RCV001075162 RCV001075531 RCV001074592 RCV001075112 RCV001073565 RCV001074097 RCV001075532 RCV001074127 RCV001075441 RCV001075165 RCV001074048 RCV001073780 RCV001074590 RCV001073418 RCV001073417 RCV004814033 RCV001073566
Retinal dystrophy, early-onset severe	Pathogenic	rs772136379, rs1671380508, rs1671886130, rs1671943905	RCV001255897 RCV001255888 RCV001255908 RCV001255902
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs2103734325, rs2104189255, rs1671340542, rs2104105073, rs770558150, rs1572934951, rs1671239184	RCV005419111 RCV001724802 RCV001724806 RCV001724810 RCV001723763 RCV000787783 RCV001199641
See cases	Likely pathogenic	rs2104104246	RCV002252649
Stage 5 chronic kidney disease	Likely pathogenic; Pathogenic	rs777476179	RCV001003950
Stickler syndrome	Likely pathogenic; Pathogenic	rs1553404310	RCV001375096
Visual impairment	Likely pathogenic; Pathogenic	rs777476179	RCV001003950

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs142022233	RCV005898145
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs765075310	RCV005925720
Cervical cancer	Benign	rs75434052, rs34927702, rs142022233	RCV005893759 RCV005893740 RCV005898149
Clear cell carcinoma of kidney	Benign; Likely benign	rs34927702, rs533965968	RCV005893741 RCV005901333
Down syndrome	Uncertain significance	rs188857186	RCV001375249
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2466102864	RCV004560211
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs2104058482, rs766656843, rs748193431	RCV005928500 RCV005901442 RCV005866821
Gastric cancer	Benign	rs142022233	RCV005898150
Germ cell tumor of testis	Benign	rs10193972	RCV005896683
Glioma susceptibility 1	Conflicting classifications of pathogenicity	rs780902654	RCV005870124
Lymphoma	Conflicting classifications of pathogenicity	rs775452962	RCV005870746
Malignant lymphoma, large B-cell, diffuse	Benign	rs6546839, rs748193431	RCV005896682 RCV005866823
Malignant tumor of esophagus	Benign	rs115517108, rs142022233, rs748193431	RCV005893756 RCV005898147 RCV005866822
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	rs2103894102, rs1462656920	RCV005930295 RCV005901334
Melanoma	Benign; Likely benign	rs142022233, rs376244626	RCV005898153 RCV005899919
Monogenic diabetes	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain risk allele; Uncertain significance	rs61741524, rs73945001, rs148040591, rs199573929, rs11889925, rs28730849, rs115517108, rs45608038, rs7587103, rs35062203, rs34071195, rs45501594, rs34927702, rs11896293, rs144486524, rs58093963, rs75145370, rs200054604, rs45630557, rs41291187, rs78102263, rs188807564, rs78039319, rs200266868, rs77555300, rs28730855, rs34398445, rs142278066, rs58806616, rs28730852, rs201074268, rs28730854, rs28730853, rs17009061, rs149096794, rs200368564, rs115444326, rs1057524883, rs377354387, rs373638043, rs150331660, rs1057524884, rs200718841, rs370622410, rs200586877, rs142022233, rs368957150, rs1057524885, rs202111717, rs189032342, rs199874928, rs752714698, rs200529564, rs201971114, rs372563916, rs553406974, rs376989302, rs771362238, rs773630367, rs199615641, rs754439156, rs1349884233, rs1444578140, rs768090632, rs745518051, rs201213079, rs771595125, rs753052003, rs757364858	RCV001172501 RCV000445450 RCV000445510 RCV001172511 RCV000445509 RCV000445400 RCV000445406 RCV001172522 RCV001172525 RCV000445518 RCV000445470 RCV000445553 RCV000445530 RCV000445464 RCV000445421 RCV000445367 RCV000445384 RCV000445446 RCV001172509 RCV000445409 RCV001172521 RCV000445498 RCV000445537 RCV001172523 RCV000445433 RCV000445515 RCV000445397 RCV001172499 RCV001172529 RCV001172514 RCV001172515 RCV001172506 RCV000445438 RCV000445426 RCV000445423 RCV001172526 RCV000445488 RCV000445480 RCV000445548 RCV000445475 RCV000445538 RCV000445492 RCV000445372 RCV000445456 RCV000445402 RCV000445473 RCV000445528 RCV000445416 RCV000445485 RCV001172510 RCV001172498 RCV001172500 RCV001172505 RCV001172518 RCV001172520 RCV001172517 RCV001172516 RCV001172507 RCV001172519 RCV001172513 RCV001172524 RCV001172502 RCV001172508 RCV001172512 RCV001172527 RCV001172528 RCV001172530 RCV001172497 RCV001172503 RCV001172504
Monogenic hearing loss	Conflicting classifications of pathogenicity	rs376602261	RCV006265184
Nephrotic syndrome	Uncertain significance	rs543921060, rs565501407	RCV001328120 RCV001328235
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	rs34927702, rs142022233, rs6546839, rs750907119	RCV005893739 RCV005898148 RCV005901432 RCV005870752
Occult maculopathy	Uncertain significance	rs760066942	RCV001255889
Optic atrophy	Uncertain significance	rs1381524403	RCV004816786
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs75434052, rs142022233, rs28730864	RCV005893760 RCV005898151 RCV005905598
Sarcoma	Benign; Uncertain significance	rs34927702, rs6546839	RCV005893742 RCV005901433
Thymoma	Benign	rs115517108, rs75434052, rs34927702	RCV005893757 RCV005893762 RCV005893744
Thyroid cancer, nonmedullary, 1	Benign; Uncertain significance	rs142022233, rs6546839	RCV005898152 RCV005901434
Uterine carcinosarcoma	Benign; Likely benign	rs75434052, rs34927702, rs28730864	RCV005893761 RCV005893743 RCV005905599
Uterine corpus endometrial carcinoma	Benign	rs34927702, rs748193431	RCV005893745 RCV005866824

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	33683834
Alstrom Syndrome	Associate	19279085, 19515241, 20381594, 20844083, 21541333, 21877133, 21897446, 22447358, 22773737, 22876109, 23188138, 23652376, 24049434, 24319333, 24690487, 24830966, 25706677, 25846608, 26077327, 26111748, 26957854, 27523285, 28112973, 28135309, 28432734, 28573831, 28724398, 29193673, 29718281, 30328943, 30477455, 31810438, 32396277, 32867697, 33264725, 33669459, 34148947, 34387706, 35843912, 36162988, 36537469, 36927560, 37439038, 38062477, 38122899
Amaurosis congenita of Leber type 1	Associate	40294858
Bardet Biedl Syndrome	Associate	22773737, 24690487, 28502102, 29193673
Blindness	Associate	36927560
Cardiomyopathies	Associate	19515241, 20381594, 25846608
Cardiomyopathy Dilated	Associate	33669459, 36927560
Cataract	Associate	24319333
Ciliopathies	Associate	28800606, 34365092, 34387706, 35764379
Cognitive Dysfunction	Associate	23188138
Colonic Neoplasms	Associate	36281164
Color Vision Defects	Associate	29193673, 36162988
Cone Rod Dystrophies	Associate	26077327, 28724398, 29193673, 31810438
Deafness	Associate	36927560
Dental Caries	Associate	29859070
Diabetes Mellitus	Associate	28432734, 36537469, 36927560
Diabetes Mellitus Type 1	Associate	23652376, 26957854
Diabetes Mellitus Type 2	Associate	19279085, 24319333
Disease	Associate	36161854
Dupuytren Contracture	Associate	35292292
Endocardial Fibroelastosis	Associate	34387706
Fibrosis	Associate	21541333, 35292292
Genetic Diseases Inborn	Associate	28135309
Hearing Loss	Associate	31810438, 34021019
Hearing Loss Sensorineural	Associate	20381594, 20844083, 36162988
Hodgkin Disease	Associate	28135309
Hyperinsulinism	Associate	19283853, 24319333
Hyperlipidemias	Associate	36927560
Hypertension Pulmonary	Associate	39542781
Hypertriglyceridemia	Associate	36927560
Hypothyroidism	Associate	24319333
Insulin Resistance	Associate	19279085, 23188138, 36927560
Kidney Diseases	Associate	30064963
Leber Congenital Amaurosis	Associate	21901789, 26957854, 29193673, 36140798
Leukemia Lymphocytic Chronic B Cell	Associate	24891321
Lipid Metabolism Disorders	Associate	36162988
Lipodystrophy	Associate	23188138
Liver Diseases	Associate	36927560
Metabolic Diseases	Associate	19515241, 20381594, 20844083
Multiple Organ Failure	Associate	25846608
Muscular Dystrophies Limb Girdle	Associate	26077327
Myocardial Infarction	Associate	29845217, 32808654
Neoplasms	Associate	24891321
Nystagmus Pathologic	Associate	36162988
Obesity	Associate	19279085, 23188138, 23652376, 24690487, 33921825, 36927560
Penile Induration	Associate	35292292
Photophobia	Stimulate	40294858
Renal Insufficiency Chronic	Associate	20383146, 21980298, 37461045
Retinal Degeneration	Associate	24319333, 24690487
Retinal Diseases	Associate	21901789, 26077327, 29193673, 34021019, 36161854
Retinal Dystrophies	Associate	26957854, 36140798
Retinitis Pigmentosa	Associate	36140798
Small Cell Lung Carcinoma	Associate	31403267
Squamous Cell Carcinoma of Head and Neck	Associate	33683834
Thiamine responsive megaloblastic anemia syndrome	Associate	28432734
Vision Low	Associate	36162988
Wolfram Syndrome	Associate	28432734
Wolfram Syndrome 2	Associate	28432734