Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907282(C;C)
Make rs387907282(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41970296
GeneATP1A3
is asnp
is mentioned by
dbSNPrs387907282
ebirs387907282
HLIrs387907282
Exacrs387907282
Varsomers387907282
Maprs387907282
PheGenIrs387907282
hapmaprs387907282
1000 genomesrs387907282
hgdprs387907282
ensemblrs387907282
gopubmedrs387907282
geneviewrs387907282
scholarrs387907282
googlers387907282
pharmgkbrs387907282
gwascentralrs387907282
openSNPrs387907282
23andMers387907282
23andMe allrs387907282
SNP Nexus

SNPshotrs387907282
SNPdbers387907282
MSV3drs387907282
GWAS Ctlgrs387907282
Max Magnitude0
ClinVar
Risk rs387907282(C;C)
Alt rs387907282(C;C)
Reference rs387907282(T;T)
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.42474448A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030751.24,