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rs28933383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28933383(C;G)
Make rs28933383(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912055
GeneKCNA1
is asnp
is mentioned by
dbSNPrs28933383
ebirs28933383
HLIrs28933383
Exacrs28933383
Varsomers28933383
Maprs28933383
PheGenIrs28933383
hapmaprs28933383
1000 genomesrs28933383
hgdprs28933383
ensemblrs28933383
gopubmedrs28933383
geneviewrs28933383
scholarrs28933383
googlers28933383
pharmgkbrs28933383
gwascentralrs28933383
openSNPrs28933383
23andMers28933383
23andMe allrs28933383
SNP Nexus

SNPshotrs28933383
SNPdbers28933383
MSV3drs28933383
GWAS Ctlgrs28933383
Max Magnitude0
OMIM176260
DescEPISODIC ATAXIA, TYPE 1
Variant0013
Relatedalso
Neighborrs28933381
Distance47
OMIM176260
Desc
Variant0014
Relatedalso


ClinVar
Risk rs28933383(A,G,T;A,G,T)
Alt rs28933383(A,G,T;A,G,T)
Reference rs28933383(C;C)
Significance Pathogenic
Disease Myokymia 1 Episodic ataxia type 1
Variation info
Gene KCNA1
CLNDBN Myokymia 1 Episodic ataxia type 1
Reversed 0
HGVS NC_000012.11:g.5021221C>A; NC_000012.11:g.5021221C>G; NC_000012.11:g.5021221C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014437.24, RCV000014436.24, RCV000020219.1,



[PMID 18974877OA-icon.png] Modifier effects between regulatory and protein-coding variation.