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rs137852839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852839(C;T)
Make rs137852839(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114403982
GeneDFNB31
is asnp
is mentioned by
dbSNPrs137852839
ebirs137852839
HLIrs137852839
Exacrs137852839
Varsomers137852839
Maprs137852839
PheGenIrs137852839
hapmaprs137852839
1000 genomesrs137852839
hgdprs137852839
ensemblrs137852839
gopubmedrs137852839
geneviewrs137852839
scholarrs137852839
googlers137852839
pharmgkbrs137852839
gwascentralrs137852839
openSNPrs137852839
23andMers137852839
23andMe allrs137852839
SNP Nexus

SNPshotrs137852839
SNPdbers137852839
MSV3drs137852839
GWAS Ctlgrs137852839
Max Magnitude0
OMIM607928
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852839(T;T)
Alt rs137852839(T;T)
Reference rs137852839(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene DFNB31
CLNDBN Deafness, autosomal recessive 31
Reversed 1
HGVS NC_000009.11:g.117166262G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002808.4,