Have questions? Visit https://www.reddit.com/r/SNPedia

rs397517258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517258(-;-)
Make rs397517258(-;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position114478747
GeneDFNB31
is asnp
is mentioned by
dbSNPrs397517258
ebirs397517258
HLIrs397517258
Exacrs397517258
Varsomers397517258
Maprs397517258
PheGenIrs397517258
hapmaprs397517258
1000 genomesrs397517258
hgdprs397517258
ensemblrs397517258
gopubmedrs397517258
geneviewrs397517258
scholarrs397517258
googlers397517258
pharmgkbrs397517258
gwascentralrs397517258
openSNPrs397517258
23andMers397517258
23andMe allrs397517258
SNP Nexus

SNPshotrs397517258
SNPdbers397517258
MSV3drs397517258
GWAS Ctlgrs397517258
Max Magnitude0
ClinVar
Risk rs397517258(;)
Alt rs397517258(;)
Reference rs397517258(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene DFNB31
CLNDBN Usher syndrome, type 2D
Reversed 1
HGVS NC_000009.11:g.117241027delC
CLNSRC ClinVar
CLNACC RCV000038897.2,