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rs28934002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28934002(A;A)
Make rs28934002(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position160128767
GeneATP1A2
is asnp
is mentioned by
dbSNPrs28934002
ebirs28934002
HLIrs28934002
Exacrs28934002
Varsomers28934002
Maprs28934002
PheGenIrs28934002
hapmaprs28934002
1000 genomesrs28934002
hgdprs28934002
ensemblrs28934002
gopubmedrs28934002
geneviewrs28934002
scholarrs28934002
googlers28934002
pharmgkbrs28934002
gwascentralrs28934002
openSNPrs28934002
23andMers28934002
23andMe allrs28934002
SNP Nexus

SNPshotrs28934002
SNPdbers28934002
MSV3drs28934002
GWAS Ctlgrs28934002
Max Magnitude0
OMIM182340
DescALTERNATING HEMIPLEGIA OF CHILDHOOD
Variant0005
Relatedalso


ClinVar
Risk rs28934002(A;A)
Alt rs28934002(A;A)
Reference rs28934002(C;C)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 1
Variation info
Gene ATP1A2
CLNDBN Alternating hemiplegia of childhood 1
Reversed 0
HGVS NC_000001.10:g.160098557C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013784.18,