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

rs398122887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122887(A;A)
Make rs398122887(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41967744
GeneATP1A3
is asnp
is mentioned by
dbSNPrs398122887
ebirs398122887
HLIrs398122887
Exacrs398122887
Varsomers398122887
Maprs398122887
PheGenIrs398122887
hapmaprs398122887
1000 genomesrs398122887
hgdprs398122887
ensemblrs398122887
gopubmedrs398122887
geneviewrs398122887
scholarrs398122887
googlers398122887
pharmgkbrs398122887
gwascentralrs398122887
openSNPrs398122887
23andMers398122887
23andMe allrs398122887
SNP Nexus

SNPshotrs398122887
SNPdbers398122887
MSV3drs398122887
GWAS Ctlgrs398122887
Max Magnitude0
ClinVar
Risk rs398122887(A,C;A,C)
Alt rs398122887(A,C;A,C)
Reference rs398122887(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.42471896C>G; NC_000019.9:g.42471896C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128466.4, RCV000030752.27,