rs539612316, ALMS1

N. diseases: 4
Disease: Alstrom Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alstrom Syndrome
CUI: C0268425
Disease: Alstrom Syndrome
0.700 CausalMutation CLINVAR Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 27665122 2018