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rs387907281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907281(A;A)
Make rs387907281(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41970284
GeneATP1A3
is asnp
is mentioned by
dbSNPrs387907281
ebirs387907281
HLIrs387907281
Exacrs387907281
Varsomers387907281
Maprs387907281
PheGenIrs387907281
hapmaprs387907281
1000 genomesrs387907281
hgdprs387907281
ensemblrs387907281
gopubmedrs387907281
geneviewrs387907281
scholarrs387907281
googlers387907281
pharmgkbrs387907281
gwascentralrs387907281
openSNPrs387907281
23andMers387907281
23andMe allrs387907281
SNP Nexus

SNPshotrs387907281
SNPdbers387907281
MSV3drs387907281
GWAS Ctlgrs387907281
Max Magnitude0
ClinVar
Risk rs387907281(A;A)
Alt rs387907281(A;A)
Reference rs387907281(G;G)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2
Reversed 1
HGVS NC_000019.9:g.42474436C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030750.20,