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rs606231444

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231444(A;A)
Make rs606231444(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41968824
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231444
ebirs606231444
HLIrs606231444
Exacrs606231444
Varsomers606231444
Maprs606231444
PheGenIrs606231444
hapmaprs606231444
1000 genomesrs606231444
hgdprs606231444
ensemblrs606231444
gopubmedrs606231444
geneviewrs606231444
scholarrs606231444
googlers606231444
pharmgkbrs606231444
gwascentralrs606231444
openSNPrs606231444
23andMers606231444
23andMe allrs606231444
SNP Nexus

SNPshotrs606231444
SNPdbers606231444
MSV3drs606231444
GWAS Ctlgrs606231444
Max Magnitude0
ClinVar
Risk rs606231444(A,T;A,T)
Alt rs606231444(A,T;A,T)
Reference rs606231444(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.42472976C>A; NC_000019.9:g.42472976C>T
CLNSRC
CLNACC RCV000148331.1, RCV000148330.1,