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rs199946797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199946797(C;T)
Make rs199946797(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position6301467
GeneWFS1
is asnp
is mentioned by
dbSNPrs199946797
dbSNP (classic)rs199946797
ClinGenrs199946797
ebirs199946797
HLIrs199946797
Exacrs199946797
Gnomadrs199946797
Varsomers199946797
LitVarrs199946797
Maprs199946797
PheGenIrs199946797
Biobankrs199946797
1000 genomesrs199946797
hgdprs199946797
ensemblrs199946797
geneviewrs199946797
scholarrs199946797
googlers199946797
pharmgkbrs199946797
gwascentralrs199946797
openSNPrs199946797
23andMers199946797
SNPshotrs199946797
SNPdbers199946797
MSV3drs199946797
GWAS Ctlgrs199946797
Max Magnitude0
ClinVar
Risk rs199946797(A;A) rs199946797(T;T)
Alt rs199946797(A;A) rs199946797(T;T)
Reference Rs199946797(C;C)
Significance Probable-Pathogenic
Disease Diabetes mellitus AND insipidus with optic atrophy AND deafness not provided Monogenic diabetes
Variation info
Gene WFS1
CLNDBN Diabetes mellitus AND insipidus with optic atrophy AND deafness not provided Monogenic diabetes
Reversed 0
HGVS NC_000004.11:g.6303194C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000180290.2, RCV000255189.1, RCV000445459.1,