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rs104894352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894352(C;C)
Make rs104894352(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912601
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894352
ebirs104894352
HLIrs104894352
Exacrs104894352
Varsomers104894352
Maprs104894352
PheGenIrs104894352
hapmaprs104894352
1000 genomesrs104894352
hgdprs104894352
ensemblrs104894352
gopubmedrs104894352
geneviewrs104894352
scholarrs104894352
googlers104894352
pharmgkbrs104894352
gwascentralrs104894352
openSNPrs104894352
23andMers104894352
23andMe allrs104894352
SNP Nexus

SNPshotrs104894352
SNPdbers104894352
MSV3drs104894352
GWAS Ctlgrs104894352
Max Magnitude0
OMIM176260
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894352(C;C)
Alt rs104894352(C;C)
Reference rs104894352(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.5021767T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014424.25,