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rs387906931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906931(A;A)
Make rs387906931(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6302133
GeneWFS1
is asnp
is mentioned by
dbSNPrs387906931
dbSNP (classic)rs387906931
ClinGenrs387906931
ebirs387906931
HLIrs387906931
Exacrs387906931
Gnomadrs387906931
Varsomers387906931
LitVarrs387906931
Maprs387906931
PheGenIrs387906931
Biobankrs387906931
1000 genomesrs387906931
hgdprs387906931
ensemblrs387906931
geneviewrs387906931
scholarrs387906931
googlers387906931
pharmgkbrs387906931
gwascentralrs387906931
openSNPrs387906931
23andMers387906931
SNPshotrs387906931
SNPdbers387906931
MSV3drs387906931
GWAS Ctlgrs387906931
Max Magnitude0
ClinVar
Risk rs387906931(A;A)
Alt rs387906931(A;A)
Reference Rs387906931(G;G)
Significance Pathogenic
Disease Wolfram-like syndrome
Variation info
Gene WFS1
CLNDBN Wolfram-like syndrome, autosomal dominant
Reversed 0
HGVS NC_000004.11:g.6303860G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023518.3,