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rs104894349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894349(G;T)
Make rs104894349(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4911898
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894349
ebirs104894349
HLIrs104894349
Exacrs104894349
Varsomers104894349
Maprs104894349
PheGenIrs104894349
hapmaprs104894349
1000 genomesrs104894349
hgdprs104894349
ensemblrs104894349
gopubmedrs104894349
geneviewrs104894349
scholarrs104894349
googlers104894349
pharmgkbrs104894349
gwascentralrs104894349
openSNPrs104894349
23andMers104894349
23andMe allrs104894349
SNP Nexus

SNPshotrs104894349
SNPdbers104894349
MSV3drs104894349
GWAS Ctlgrs104894349
Max Magnitude0
OMIM176260
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894349(T;T)
Alt rs104894349(T;T)
Reference rs104894349(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.5021064G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014426.17,