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rs80356536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356536(C;C)
Make rs80356536(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41970468
GeneATP1A3
is asnp
is mentioned by
dbSNPrs80356536
ClinGenrs80356536
ebirs80356536
HLIrs80356536
Exacrs80356536
Varsomers80356536
Maprs80356536
PheGenIrs80356536
hapmaprs80356536
1000 genomesrs80356536
hgdprs80356536
ensemblrs80356536
gopubmedrs80356536
geneviewrs80356536
scholarrs80356536
googlers80356536
pharmgkbrs80356536
gwascentralrs80356536
openSNPrs80356536
23andMers80356536
23andMe allrs80356536
SNP Nexus

SNPshotrs80356536
SNPdbers80356536
MSV3drs80356536
GWAS Ctlgrs80356536
Max Magnitude0
OMIM182350
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80356536(C;C)
Alt rs80356536(C;C)
Reference Rs80356536(T;T)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42474620A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013776.26,


[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.