Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs879253741
rs879253741
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912968
rs121912968
GJB2
0.010 GeneticVariation BEFREE Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome. 17993581

2008