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rs397516875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common/normal


Make rs397516875(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20189197
GeneGJB2
is asnp
is mentioned by
dbSNPrs397516875
ebirs397516875
HLIrs397516875
Exacrs397516875
Varsomers397516875
Maprs397516875
PheGenIrs397516875
hapmaprs397516875
1000 genomesrs397516875
hgdprs397516875
ensemblrs397516875
gopubmedrs397516875
geneviewrs397516875
scholarrs397516875
googlers397516875
pharmgkbrs397516875
gwascentralrs397516875
openSNPrs397516875
23andMers397516875
23andMe allrs397516875
SNP Nexus

SNPshotrs397516875
SNPdbers397516875
MSV3drs397516875
GWAS Ctlgrs397516875
Max Magnitude3
ClinVar
Risk rs397516875(A;A)
Alt rs397516875(A;A)
Reference rs397516875(G;G)
Significance Unknown
Disease not specified
Variation info
Gene GJB2
CLNDBN not specified
Reversed 1
HGVS NC_000013.10:g.20763336C>T
CLNSRC
CLNACC RCV000037849.2,