rs76737438, KCNQ1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.010 GeneticVariation BEFREE We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*). 30461122 2019