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rs113994117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994117(G;T)
Make rs113994117(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912600
GeneKCNA1
is asnp
is mentioned by
dbSNPrs113994117
ebirs113994117
HLIrs113994117
Exacrs113994117
Varsomers113994117
Maprs113994117
PheGenIrs113994117
hapmaprs113994117
1000 genomesrs113994117
hgdprs113994117
ensemblrs113994117
gopubmedrs113994117
geneviewrs113994117
scholarrs113994117
googlers113994117
pharmgkbrs113994117
gwascentralrs113994117
openSNPrs113994117
23andMers113994117
23andMe allrs113994117
SNP Nexus

SNPshotrs113994117
SNPdbers113994117
MSV3drs113994117
GWAS Ctlgrs113994117
Max Magnitude0
ClinVar
Risk rs113994117(T;T)
Alt rs113994117(T;T)
Reference rs113994117(G;G)
Significance Pathogenic
Disease Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021766G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020217.1,


OMIM160120
Desc
Variant
Relatedalso