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rs104893879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893879(A;A)
Make rs104893879(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6301739
GeneWFS1
is asnp
is mentioned by
dbSNPrs104893879
dbSNP (classic)rs104893879
ClinGenrs104893879
ebirs104893879
HLIrs104893879
Exacrs104893879
Gnomadrs104893879
Varsomers104893879
LitVarrs104893879
Maprs104893879
PheGenIrs104893879
Biobankrs104893879
1000 genomesrs104893879
hgdprs104893879
ensemblrs104893879
geneviewrs104893879
scholarrs104893879
googlers104893879
pharmgkbrs104893879
gwascentralrs104893879
openSNPrs104893879
23andMers104893879
SNPshotrs104893879
SNPdbers104893879
MSV3drs104893879
GWAS Ctlgrs104893879
Max Magnitude0
OMIM606201
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893879(A;A) rs104893879(C;C)
Alt rs104893879(A;A) rs104893879(C;C)
Reference Rs104893879(G;G)
Significance Pathogenic
Disease Diabetes mellitus AND insipidus with optic atrophy AND deafness
Variation info
Gene WFS1
CLNDBN Diabetes mellitus AND insipidus with optic atrophy AND deafness
Reversed 0
HGVS NC_000004.11:g.6303466G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004769.5,