Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906930
rs387906930
WFS1
0.020 GeneticVariation BEFREE Among these families, we found three heterozygous missense mutations in WFS1 segregating with OA and SNHL: p.A684V (six families), and two novel mutations, p.G780S and p.D797Y, all involving evolutionarily conserved amino acids and absent from 298 control chromosomes. 21538838

2011
dbSNP: rs387906930
rs387906930
WFS1
0.020 GeneticVariation BEFREE Their father has congenital sensorineural hearing loss and developed optic atrophy.He is heterozygous for A684V in WFS1. 21067485

2010