Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;T) 3 Carrier of a recessive deafness mutation
Make rs730880338(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20189312
GeneGJB2
is asnp
is mentioned by
dbSNPrs730880338
ebirs730880338
HLIrs730880338
Exacrs730880338
Varsomers730880338
Maprs730880338
PheGenIrs730880338
hapmaprs730880338
1000 genomesrs730880338
hgdprs730880338
ensemblrs730880338
gopubmedrs730880338
geneviewrs730880338
scholarrs730880338
googlers730880338
pharmgkbrs730880338
gwascentralrs730880338
openSNPrs730880338
23andMers730880338
23andMe allrs730880338
SNP Nexus

SNPshotrs730880338
SNPdbers730880338
MSV3drs730880338
GWAS Ctlgrs730880338
Max Magnitude3
c.269dupT (p.Val91Serfs)

ClinVar pathogenic/likely pathogenic for deafness, DFNB1A

ClinVar
Risk rs730880338(T;T)
Alt rs730880338(T;T)
Reference rs730880338(;)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763452dupA
CLNSRC
CLNACC RCV000154347.4, RCV000211771.1,