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rs606231429

From SNPedia

Merged intors397515578
Orientationminus
Stabilizedminus
Geno Mag Summary
(CTG;CTG) 0 common in clinvar
Make rs606231429(-;-)
Make rs606231429(-;CTG)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41984930
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231429
dbSNP (classic)rs606231429
ClinGenrs606231429
ebirs606231429
HLIrs606231429
Exacrs606231429
Gnomadrs606231429
Varsomers606231429
LitVarrs606231429
Maprs606231429
PheGenIrs606231429
Biobankrs606231429
1000 genomesrs606231429
hgdprs606231429
ensemblrs606231429
geneviewrs606231429
scholarrs606231429
googlers606231429
pharmgkbrs606231429
gwascentralrs606231429
openSNPrs606231429
23andMers606231429
SNPshotrs606231429
SNPdbers606231429
MSV3drs606231429
GWAS Ctlgrs606231429
StatusMerged into rs397515578
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs606231429(CTG;CTG)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42489082_42489084delCAG
CLNSRC
CLNACC RCV000148307.1,