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rs111033591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033591(C;T)
Make rs111033591(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position868697
GeneWNK1
is asnp
is mentioned by
dbSNPrs111033591
dbSNP (classic)rs111033591
ClinGenrs111033591
ebirs111033591
HLIrs111033591
Exacrs111033591
Gnomadrs111033591
Varsomers111033591
LitVarrs111033591
Maprs111033591
PheGenIrs111033591
Biobankrs111033591
1000 genomesrs111033591
hgdprs111033591
ensemblrs111033591
geneviewrs111033591
scholarrs111033591
googlers111033591
pharmgkbrs111033591
gwascentralrs111033591
openSNPrs111033591
23andMers111033591
SNPshotrs111033591
SNPdbers111033591
MSV3drs111033591
GWAS Ctlgrs111033591
Max Magnitude0
OMIM605232
Desc
Variant0005
Relatedalso
OMIM605232
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033591(T;T)
Alt rs111033591(T;T)
Reference Rs111033591(C;C)
Significance Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IIA not provided
Variation info
Gene WNK1
CLNDBN Hereditary sensory and autonomic neuropathy type IIA not provided
Reversed 0
HGVS NC_000012.11:g.977863C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005475.3, RCV000480631.1,