Gene: ALMS1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553403917
rs1553403917
ALMS1
CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548

2018
dbSNP: rs539612316
rs539612316
ALMS1
A 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 27665122

2018
dbSNP: rs1553404283
rs1553404283
ALMS1
C 0.700 CausalMutation CLINVAR Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. 28432734

2017
dbSNP: rs1275113273
rs1275113273
ALMS1
T 0.700 CausalMutation CLINVAR Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781

2016
dbSNP: rs1553404109
rs1553404109
ALMS1
AT 0.700 CausalMutation CLINVAR ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 26010121

2016
dbSNP: rs367877017
rs367877017
ALMS1
A 0.700 CausalMutation CLINVAR Genetic evaluation of patients with Alström syndrome in the Polish population. 26283575

2016
dbSNP: rs755616266
rs755616266
ALMS1
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: rs779366889
rs779366889
ALMS1
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
ALMS1
T 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1370417967
rs1370417967
ALMS1
C 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1476205467
rs1476205467
ALMS1
A 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1553403282
rs1553403282
ALMS1
A 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1553404066
rs1553404066
ALMS1
T 0.700 GeneticVariation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050

2015
dbSNP: rs1553404252
rs1553404252
ALMS1
T 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1553404283
rs1553404283
ALMS1
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
ALMS1
A 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1553404358
rs1553404358
ALMS1
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
ALMS1
CT 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1553409710
rs1553409710
ALMS1
T 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs1553421626
rs1553421626
ALMS1
C 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs387906312
rs387906312
ALMS1
A 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs747272625
rs747272625
ALMS1
T 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs757722767
rs757722767
ALMS1
GA 0.700 GeneticVariation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs759603306
rs759603306
ALMS1
AAT 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
dbSNP: rs760264695
rs760264695
ALMS1
TGTTA 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015