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rs587783646

From SNPedia

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


Make rs587783646(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20188949
GeneGJB2
is asnp
is mentioned by
dbSNPrs587783646
ebirs587783646
HLIrs587783646
Exacrs587783646
Varsomers587783646
Maprs587783646
PheGenIrs587783646
hapmaprs587783646
1000 genomesrs587783646
hgdprs587783646
ensemblrs587783646
gopubmedrs587783646
geneviewrs587783646
scholarrs587783646
googlers587783646
pharmgkbrs587783646
gwascentralrs587783646
openSNPrs587783646
23andMers587783646
23andMe allrs587783646
SNP Nexus

SNPshotrs587783646
SNPdbers587783646
MSV3drs587783646
GWAS Ctlgrs587783646
Max Magnitude3
ClinVar
Risk rs587783646(;)
Alt rs587783646(;)
Reference rs587783646(GT;GT)
Significance Pathogenic
Disease Hearing impairment Deafness
Variation info
Gene GJB2
CLNDBN Hearing impairment Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763088_20763089delAC
CLNSRC
CLNACC RCV000146026.1, RCV000169500.1,