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rs104894355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894355(A;A)
Make rs104894355(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912588
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894355
ebirs104894355
HLIrs104894355
Exacrs104894355
Varsomers104894355
Maprs104894355
PheGenIrs104894355
hapmaprs104894355
1000 genomesrs104894355
hgdprs104894355
ensemblrs104894355
gopubmedrs104894355
geneviewrs104894355
scholarrs104894355
googlers104894355
pharmgkbrs104894355
gwascentralrs104894355
openSNPrs104894355
23andMers104894355
23andMe allrs104894355
SNP Nexus

SNPshotrs104894355
SNPdbers104894355
MSV3drs104894355
GWAS Ctlgrs104894355
Max Magnitude0
OMIM176260
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894355(A;A)
Alt rs104894355(A;A)
Reference rs104894355(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.5021754G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014431.17,