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rs80356533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356533(A;A)
Make rs80356533(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41985082
GeneATP1A3
is asnp
is mentioned by
dbSNPrs80356533
ebirs80356533
HLIrs80356533
Exacrs80356533
Varsomers80356533
Maprs80356533
PheGenIrs80356533
hapmaprs80356533
1000 genomesrs80356533
hgdprs80356533
ensemblrs80356533
gopubmedrs80356533
geneviewrs80356533
scholarrs80356533
googlers80356533
pharmgkbrs80356533
gwascentralrs80356533
openSNPrs80356533
23andMers80356533
23andMe allrs80356533
SNP Nexus

SNPshotrs80356533
SNPdbers80356533
MSV3drs80356533
GWAS Ctlgrs80356533
Max Magnitude0
OMIM182350
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356533(A;A)
Alt rs80356533(A;A)
Reference rs80356533(G;G)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42489234C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013774.26,


[PMID 15260953] Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.


[PMID 17282997] The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.