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rs113994120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar
Make rs113994120(-;-)
Make rs113994120(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912126
GeneKCNA1
is asnp
is mentioned by
dbSNPrs113994120
ebirs113994120
HLIrs113994120
Exacrs113994120
Varsomers113994120
Maprs113994120
PheGenIrs113994120
hapmaprs113994120
1000 genomesrs113994120
hgdprs113994120
ensemblrs113994120
gopubmedrs113994120
geneviewrs113994120
scholarrs113994120
googlers113994120
pharmgkbrs113994120
gwascentralrs113994120
openSNPrs113994120
23andMers113994120
23andMe allrs113994120
SNP Nexus

SNPshotrs113994120
SNPdbers113994120
MSV3drs113994120
GWAS Ctlgrs113994120
Max Magnitude0
ClinVar
Risk rs113994120(;)
Alt rs113994120(;)
Reference rs113994120(CTT;CTT)
Significance Pathogenic
Disease Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021292_5021294delTTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020221.1,


OMIM160120
Desc
Variant
Relatedalso