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rs397516877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516877(A;A)
Make rs397516877(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189156
GeneGJB2
is asnp
is mentioned by
dbSNPrs397516877
ebirs397516877
HLIrs397516877
Exacrs397516877
Varsomers397516877
Maprs397516877
PheGenIrs397516877
hapmaprs397516877
1000 genomesrs397516877
hgdprs397516877
ensemblrs397516877
gopubmedrs397516877
geneviewrs397516877
scholarrs397516877
googlers397516877
pharmgkbrs397516877
gwascentralrs397516877
openSNPrs397516877
23andMers397516877
23andMe allrs397516877
SNP Nexus

SNPshotrs397516877
SNPdbers397516877
MSV3drs397516877
GWAS Ctlgrs397516877
Max Magnitude0
ClinVar
Risk rs397516877(A;A)
Alt rs397516877(A;A)
Reference rs397516877(C;C)
Significance Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763295G>T
CLNSRC ClinVar
CLNACC RCV000037852.2,