WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Sensorineural Hearing Loss (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906930
rs387906930
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. 21538838 2011