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

rs606231434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231434(C;C)
Make rs606231434(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41970542
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231434
dbSNP (classic)rs606231434
ClinGenrs606231434
ebirs606231434
HLIrs606231434
Exacrs606231434
Gnomadrs606231434
Varsomers606231434
LitVarrs606231434
Maprs606231434
PheGenIrs606231434
Biobankrs606231434
1000 genomesrs606231434
hgdprs606231434
ensemblrs606231434
geneviewrs606231434
scholarrs606231434
googlers606231434
pharmgkbrs606231434
gwascentralrs606231434
openSNPrs606231434
23andMers606231434
SNPshotrs606231434
SNPdbers606231434
MSV3drs606231434
GWAS Ctlgrs606231434
Max Magnitude0
ClinVar
Risk rs606231434(C;C)
Alt rs606231434(C;C)
Reference Rs606231434(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.42474694C>G
CLNSRC
CLNACC RCV000148312.1,