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rs137852840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852840(C;T)
Make rs137852840(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114504495
GeneDFNB31
is asnp
is mentioned by
dbSNPrs137852840
ebirs137852840
HLIrs137852840
Exacrs137852840
Varsomers137852840
Maprs137852840
PheGenIrs137852840
hapmaprs137852840
1000 genomesrs137852840
hgdprs137852840
ensemblrs137852840
gopubmedrs137852840
geneviewrs137852840
scholarrs137852840
googlers137852840
pharmgkbrs137852840
gwascentralrs137852840
openSNPrs137852840
23andMers137852840
23andMe allrs137852840
SNP Nexus

SNPshotrs137852840
SNPdbers137852840
MSV3drs137852840
GWAS Ctlgrs137852840
Max Magnitude0
OMIM607928
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852840(T;T)
Alt rs137852840(T;T)
Reference rs137852840(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene DFNB31
CLNDBN Usher syndrome, type 2D
Reversed 1
HGVS NC_000009.11:g.117266775G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002809.4,