Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72474224
rs72474224
GJB2
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 GeneticVariation BEFREE The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. 27350192

2016
dbSNP: rs72474224
rs72474224
GJB2
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 GeneticVariation BEFREE The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. 27350192

2016