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rs606231447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231447(G;T)
Make rs606231447(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41967288
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231447
dbSNP (classic)rs606231447
ClinGenrs606231447
ebirs606231447
HLIrs606231447
Exacrs606231447
Gnomadrs606231447
Varsomers606231447
LitVarrs606231447
Maprs606231447
PheGenIrs606231447
Biobankrs606231447
1000 genomesrs606231447
hgdprs606231447
ensemblrs606231447
geneviewrs606231447
scholarrs606231447
googlers606231447
pharmgkbrs606231447
gwascentralrs606231447
openSNPrs606231447
23andMers606231447
SNPshotrs606231447
SNPdbers606231447
MSV3drs606231447
GWAS Ctlgrs606231447
Max Magnitude0
ClinVar
Risk rs606231447(T;T)
Alt rs606231447(T;T)
Reference Rs606231447(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.42471440C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000148334.1,