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rs267607195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607195(A;A)
Make rs267607195(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4911908
GeneKCNA1
is asnp
is mentioned by
dbSNPrs267607195
ebirs267607195
HLIrs267607195
Exacrs267607195
Varsomers267607195
Maprs267607195
PheGenIrs267607195
hapmaprs267607195
1000 genomesrs267607195
hgdprs267607195
ensemblrs267607195
gopubmedrs267607195
geneviewrs267607195
scholarrs267607195
googlers267607195
pharmgkbrs267607195
gwascentralrs267607195
openSNPrs267607195
23andMers267607195
23andMe allrs267607195
SNP Nexus

SNPshotrs267607195
SNPdbers267607195
MSV3drs267607195
GWAS Ctlgrs267607195
Max Magnitude0
ClinVar
Risk rs267607195(A;A)
Alt rs267607195(A;A)
Reference rs267607195(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.5021074T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014432.25,