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rs587783647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GATA) 3 Carrier of a recessive deafness mutation
(GATA;GATA) 0 common in clinvar


Make rs587783647(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20188932
GeneGJB2
is asnp
is mentioned by
dbSNPrs587783647
ebirs587783647
HLIrs587783647
Exacrs587783647
Varsomers587783647
Maprs587783647
PheGenIrs587783647
hapmaprs587783647
1000 genomesrs587783647
hgdprs587783647
ensemblrs587783647
gopubmedrs587783647
geneviewrs587783647
scholarrs587783647
googlers587783647
pharmgkbrs587783647
gwascentralrs587783647
openSNPrs587783647
23andMers587783647
23andMe allrs587783647
SNP Nexus

SNPshotrs587783647
SNPdbers587783647
MSV3drs587783647
GWAS Ctlgrs587783647
Max Magnitude3
ClinVar
Risk rs587783647(;)
Alt rs587783647(;)
Reference rs587783647(GATA;GATA)
Significance Pathogenic
Disease Hearing impairment not provided Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Hearing impairment not provided Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763071_20763074delTATC
CLNSRC HGMD
CLNACC RCV000146027.1, RCV000153313.2, RCV000175766.1, RCV000217521.1,