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rs606231443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTC;GTC) 0 common in clinvar
Make rs606231443(-;-)
Make rs606231443(-;GTC)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41968847
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231443
dbSNP (classic)rs606231443
ClinGenrs606231443
ebirs606231443
HLIrs606231443
Exacrs606231443
Gnomadrs606231443
Varsomers606231443
LitVarrs606231443
Maprs606231443
PheGenIrs606231443
Biobankrs606231443
1000 genomesrs606231443
hgdprs606231443
ensemblrs606231443
geneviewrs606231443
scholarrs606231443
googlers606231443
pharmgkbrs606231443
gwascentralrs606231443
openSNPrs606231443
23andMers606231443
SNPshotrs606231443
SNPdbers606231443
MSV3drs606231443
GWAS Ctlgrs606231443
Max Magnitude0
ClinVar
Risk rs606231443(-;-)
Alt rs606231443(-;-)
Reference Rs606231443(GTC;GTC)
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.42472999_42473001delGAC
CLNSRC
CLNACC RCV000148328.1,