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rs104894354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894354(A;G)
Make rs104894354(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912054
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894354
ebirs104894354
HLIrs104894354
Exacrs104894354
Varsomers104894354
Maprs104894354
PheGenIrs104894354
hapmaprs104894354
1000 genomesrs104894354
hgdprs104894354
ensemblrs104894354
gopubmedrs104894354
geneviewrs104894354
scholarrs104894354
googlers104894354
pharmgkbrs104894354
gwascentralrs104894354
openSNPrs104894354
23andMers104894354
23andMe allrs104894354
SNP Nexus

SNPshotrs104894354
SNPdbers104894354
MSV3drs104894354
GWAS Ctlgrs104894354
Max Magnitude0
OMIM176260
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894354(G;G)
Alt rs104894354(G;G)
Reference rs104894354(A;A)
Significance Pathogenic
Disease Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021220A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014430.17,