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rs371024165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs371024165(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189488
GeneGJB2
is asnp
is mentioned by
dbSNPrs371024165
ebirs371024165
HLIrs371024165
Exacrs371024165
Varsomers371024165
Maprs371024165
PheGenIrs371024165
hapmaprs371024165
1000 genomesrs371024165
hgdprs371024165
ensemblrs371024165
gopubmedrs371024165
geneviewrs371024165
scholarrs371024165
googlers371024165
pharmgkbrs371024165
gwascentralrs371024165
openSNPrs371024165
23andMers371024165
23andMe allrs371024165
SNP Nexus

SNPshotrs371024165
SNPdbers371024165
MSV3drs371024165
GWAS Ctlgrs371024165
Max Magnitude3
ClinVar
Risk rs371024165(A;A)
Alt rs371024165(A;A)
Reference rs371024165(G;G)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763627G>A
CLNSRC
CLNACC RCV000169075.1,