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rs397517255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517255(C;T)
Make rs397517255(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114424483
GeneDFNB31
is asnp
is mentioned by
dbSNPrs397517255
ebirs397517255
HLIrs397517255
Exacrs397517255
Varsomers397517255
Maprs397517255
PheGenIrs397517255
hapmaprs397517255
1000 genomesrs397517255
hgdprs397517255
ensemblrs397517255
gopubmedrs397517255
geneviewrs397517255
scholarrs397517255
googlers397517255
pharmgkbrs397517255
gwascentralrs397517255
openSNPrs397517255
23andMers397517255
23andMe allrs397517255
SNP Nexus

SNPshotrs397517255
SNPdbers397517255
MSV3drs397517255
GWAS Ctlgrs397517255
Max Magnitude0
ClinVar
Risk rs397517255(T;T)
Alt rs397517255(T;T)
Reference rs397517255(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene DFNB31
CLNDBN Usher syndrome, type 2D
Reversed 1
HGVS NC_000009.11:g.117186763G>A
CLNSRC ClinVar
CLNACC RCV000038863.2,