Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894357(G;G)
Make rs104894357(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4911929
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894357
ebirs104894357
HLIrs104894357
Exacrs104894357
Varsomers104894357
Maprs104894357
PheGenIrs104894357
hapmaprs104894357
1000 genomesrs104894357
hgdprs104894357
ensemblrs104894357
gopubmedrs104894357
geneviewrs104894357
scholarrs104894357
googlers104894357
pharmgkbrs104894357
gwascentralrs104894357
openSNPrs104894357
23andMers104894357
23andMe allrs104894357
SNP Nexus

SNPshotrs104894357
SNPdbers104894357
MSV3drs104894357
GWAS Ctlgrs104894357
Max Magnitude0
OMIM176260
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894357(G;G)
Alt rs104894357(G;G)
Reference rs104894357(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.5021095T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014428.25,