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rs28937893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937893(A;A)
Make rs28937893(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6301941
GeneWFS1
is asnp
is mentioned by
dbSNPrs28937893
dbSNP (classic)rs28937893
ClinGenrs28937893
ebirs28937893
HLIrs28937893
Exacrs28937893
Gnomadrs28937893
Varsomers28937893
LitVarrs28937893
Maprs28937893
PheGenIrs28937893
Biobankrs28937893
1000 genomesrs28937893
hgdprs28937893
ensemblrs28937893
geneviewrs28937893
scholarrs28937893
googlers28937893
pharmgkbrs28937893
gwascentralrs28937893
openSNPrs28937893
23andMers28937893
SNPshotrs28937893
SNPdbers28937893
MSV3drs28937893
GWAS Ctlgrs28937893
Max Magnitude0

deafness

OMIM606201
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6
Variant0014
Relatedalso



ClinVar
Risk rs28937893(A;A)
Alt rs28937893(A;A)
Reference Rs28937893(G;G)
Significance Pathogenic
Disease WFS1-Related Disorders Diabetes mellitus AND insipidus with optic atrophy AND deafness
Variation info
Gene WFS1
CLNDBN WFS1-Related Disorders Diabetes mellitus AND insipidus with optic atrophy AND deafness
Reversed 0
HGVS NC_000004.11:g.6303668G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004778.4, RCV000152686.1,