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rs28933381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28933381(C;C)
Make rs28933381(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912102
GeneKCNA1
is asnp
is mentioned by
dbSNPrs28933381
ebirs28933381
HLIrs28933381
Exacrs28933381
Varsomers28933381
Maprs28933381
PheGenIrs28933381
hapmaprs28933381
1000 genomesrs28933381
hgdprs28933381
ensemblrs28933381
gopubmedrs28933381
geneviewrs28933381
scholarrs28933381
googlers28933381
pharmgkbrs28933381
gwascentralrs28933381
openSNPrs28933381
23andMers28933381
23andMe allrs28933381
SNP Nexus

SNPshotrs28933381
SNPdbers28933381
MSV3drs28933381
GWAS Ctlgrs28933381
Max Magnitude0
OMIM176260
DescMYOKYMIA
Variant0010
Relatedalso
Neighborrs28933383
Distance47
Neighborrs28933382
Distance7


ClinVar
Risk rs28933381(C;C)
Alt rs28933381(C;C)
Reference rs28933381(G;G)
Significance Pathogenic
Disease Myokymia 1
Variation info
Gene KCNA1
CLNDBN Myokymia 1
Reversed 0
HGVS NC_000012.11:g.5021268G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014433.24,