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rs104894356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894356(A;A)
Make rs104894356(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912123
GeneKCNA1
is asnp
is mentioned by
dbSNPrs104894356
ebirs104894356
HLIrs104894356
Exacrs104894356
Varsomers104894356
Maprs104894356
PheGenIrs104894356
hapmaprs104894356
1000 genomesrs104894356
hgdprs104894356
ensemblrs104894356
gopubmedrs104894356
geneviewrs104894356
scholarrs104894356
googlers104894356
pharmgkbrs104894356
gwascentralrs104894356
openSNPrs104894356
23andMers104894356
23andMe allrs104894356
SNP Nexus

SNPshotrs104894356
SNPdbers104894356
MSV3drs104894356
GWAS Ctlgrs104894356
Max Magnitude0
OMIM176260
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894356(A;A)
Alt rs104894356(A;A)
Reference rs104894356(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.5021289T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014427.17,