WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199946797
rs199946797
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0043207
Disease:
Wolfram Syndrome 		0.010 GeneticVariation BEFREE Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. 22226368 2012