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rs113994118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994118(G;G)
Make rs113994118(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912619
GeneKCNA1
is asnp
is mentioned by
dbSNPrs113994118
ebirs113994118
HLIrs113994118
Exacrs113994118
Varsomers113994118
Maprs113994118
PheGenIrs113994118
hapmaprs113994118
1000 genomesrs113994118
hgdprs113994118
ensemblrs113994118
gopubmedrs113994118
geneviewrs113994118
scholarrs113994118
googlers113994118
pharmgkbrs113994118
gwascentralrs113994118
openSNPrs113994118
23andMers113994118
23andMe allrs113994118
SNP Nexus

SNPshotrs113994118
SNPdbers113994118
MSV3drs113994118
GWAS Ctlgrs113994118
Max Magnitude0
ClinVar
Risk rs113994118(G;G)
Alt rs113994118(G;G)
Reference rs113994118(T;T)
Significance Pathogenic
Disease Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021785T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020218.1,


OMIM160120
Desc
Variant
Relatedalso