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rs111033590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033590(C;T)
Make rs111033590(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position868772
GeneWNK1
is asnp
is mentioned by
dbSNPrs111033590
dbSNP (classic)rs111033590
ClinGenrs111033590
ebirs111033590
HLIrs111033590
Exacrs111033590
Gnomadrs111033590
Varsomers111033590
LitVarrs111033590
Maprs111033590
PheGenIrs111033590
Biobankrs111033590
1000 genomesrs111033590
hgdprs111033590
ensemblrs111033590
geneviewrs111033590
scholarrs111033590
googlers111033590
pharmgkbrs111033590
gwascentralrs111033590
openSNPrs111033590
23andMers111033590
SNPshotrs111033590
SNPdbers111033590
MSV3drs111033590
GWAS Ctlgrs111033590
Max Magnitude0
OMIM605232
Desc
Variant0005
Relatedalso
OMIM201300
Desc
Variant
Relatedalso
OMIM605232
Desc
Variant0003
Relatedalso
ClinVar
Risk rs111033590(T;T)
Alt rs111033590(T;T)
Reference Rs111033590(C;C)
Significance Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene WNK1
CLNDBN Hereditary sensory and autonomic neuropathy type IIA
Reversed 0
HGVS NC_000012.11:g.977938C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020433.1,