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rs121912618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912618(A;A)
Make rs121912618(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6302371
GeneLOC107986257, WFS1
is asnp
is mentioned by
dbSNPrs121912618
dbSNP (classic)rs121912618
ClinGenrs121912618
ebirs121912618
HLIrs121912618
Exacrs121912618
Gnomadrs121912618
Varsomers121912618
LitVarrs121912618
Maprs121912618
PheGenIrs121912618
Biobankrs121912618
1000 genomesrs121912618
hgdprs121912618
ensemblrs121912618
geneviewrs121912618
scholarrs121912618
googlers121912618
pharmgkbrs121912618
gwascentralrs121912618
openSNPrs121912618
23andMers121912618
SNPshotrs121912618
SNPdbers121912618
MSV3drs121912618
GWAS Ctlgrs121912618
Max Magnitude0
OMIM606201
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912618(A;A)
Alt rs121912618(A;A)
Reference Rs121912618(G;G)
Significance Pathogenic
Disease WFS1-Related Disorders WFS1-Related Spectrum Disorders Nonsyndromic Hearing Loss not specified
Variation info
Gene WFS1
CLNDBN WFS1-Related Disorders WFS1-Related Spectrum Disorders Nonsyndromic Hearing Loss, Dominant not specified
Reversed 0
HGVS NC_000004.11:g.6304098G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004787.3, RCV000275899.1, RCV000367914.1, RCV000480362.1,