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rs104894358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894358(C;T)
Make rs104894358(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912627
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894358
ebirs104894358
HLIrs104894358
Exacrs104894358
Varsomers104894358
Maprs104894358
PheGenIrs104894358
hapmaprs104894358
1000 genomesrs104894358
hgdprs104894358
ensemblrs104894358
gopubmedrs104894358
geneviewrs104894358
scholarrs104894358
googlers104894358
pharmgkbrs104894358
gwascentralrs104894358
openSNPrs104894358
23andMers104894358
23andMe allrs104894358
SNP Nexus

SNPshotrs104894358
SNPdbers104894358
MSV3drs104894358
GWAS Ctlgrs104894358
Max Magnitude0
OMIM176260
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894358(T;T)
Alt rs104894358(T;T)
Reference rs104894358(C;C)
Significance Pathogenic
Disease Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021793C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014435.25,