Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7587577
rs7587577
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. 27588450 2016
dbSNP: rs779366889
rs779366889
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 26010121 2016
dbSNP: rs1275113273
rs1275113273
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1370417967
rs1370417967
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1476205467
rs1476205467
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1553403282
rs1553403282
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1553404066
rs1553404066
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
dbSNP: rs1553404252
rs1553404252
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1553404283
rs1553404283
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 26104972 2015
dbSNP: rs1553404358
rs1553404358
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1553404358
rs1553404358
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 GeneticVariation CLINVAR Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 26104972 2015
dbSNP: rs1553409691
rs1553409691
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		CT 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1553409710
rs1553409710
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs1553421626
rs1553421626
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs387906312
rs387906312
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs56145559
rs56145559
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0036341
Disease:
Schizophrenia 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
dbSNP: rs747272625
rs747272625
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs757722767
rs757722767
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		GA 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs759603306
rs759603306
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		AAT 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs760264695
rs760264695
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		TGTTA 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs769291842
rs769291842
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		TA 0.700 GeneticVariation CLINVAR Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 26104972 2015
dbSNP: rs770558150
rs770558150
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs770558150
rs770558150
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy. 25706677 2015
dbSNP: rs772136379
rs772136379
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		G 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
dbSNP: rs777476179
rs777476179
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 26104972 2015