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rs104894348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894348(A;A)
Make rs104894348(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912093
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894348
ebirs104894348
HLIrs104894348
Exacrs104894348
Varsomers104894348
Maprs104894348
PheGenIrs104894348
hapmaprs104894348
1000 genomesrs104894348
hgdprs104894348
ensemblrs104894348
gopubmedrs104894348
geneviewrs104894348
scholarrs104894348
googlers104894348
pharmgkbrs104894348
gwascentralrs104894348
openSNPrs104894348
23andMers104894348
23andMe allrs104894348
SNP Nexus

SNPshotrs104894348
SNPdbers104894348
MSV3drs104894348
GWAS Ctlgrs104894348
Max Magnitude0
OMIM176260
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894348(A;A)
Alt rs104894348(A;A)
Reference rs104894348(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.5021259C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014425.25,