rs80356533

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80356533(A;A)

Make rs80356533(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41985082

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs80356533
dbSNP (classic)	rs80356533
ClinGen	rs80356533
ebi	rs80356533
HLI	rs80356533
Exac	rs80356533
Gnomad	rs80356533
Varsome	rs80356533
LitVar	rs80356533
Map	rs80356533
PheGenI	rs80356533
Biobank	rs80356533
1000 genomes	rs80356533
hgdp	rs80356533
ensembl	rs80356533
geneview	rs80356533
scholar	rs80356533
google	rs80356533
pharmgkb	rs80356533
gwascentral	rs80356533
openSNP	rs80356533
23andMe	rs80356533
SNPshot	rs80356533
SNPdbe	rs80356533
MSV3d	rs80356533
GWAS Ctlg	rs80356533

Max Magnitude

0

OMIM	182350
Desc
Variant	0003
Related	also

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 UniProtKB (protein)
CLNACC	RCV000013774.27,

[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.