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rs80356535

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356535(G;G)
Make rs80356535(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41970533
GeneATP1A3
is asnp
is mentioned by
dbSNPrs80356535
ebirs80356535
HLIrs80356535
Exacrs80356535
Varsomers80356535
Maprs80356535
PheGenIrs80356535
hapmaprs80356535
1000 genomesrs80356535
hgdprs80356535
ensemblrs80356535
gopubmedrs80356535
geneviewrs80356535
scholarrs80356535
googlers80356535
pharmgkbrs80356535
gwascentralrs80356535
openSNPrs80356535
23andMers80356535
23andMe allrs80356535
SNP Nexus

SNPshotrs80356535
SNPdbers80356535
MSV3drs80356535
GWAS Ctlgrs80356535
Max Magnitude0
OMIM182350
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356535(G;G)
Alt rs80356535(G;G)
Reference rs80356535(T;T)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42474685A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013775.25,


[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.