rs80356536

Orientation

minus

Stabilized

minus

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

Make rs80356536(C;C)

Make rs80356536(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41970468

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs80356536
dbSNP (classic)	rs80356536
ClinGen	rs80356536
ebi	rs80356536
HLI	rs80356536
Exac	rs80356536
Gnomad	rs80356536
Varsome	rs80356536
LitVar	rs80356536
Map	rs80356536
PheGenI	rs80356536
Biobank	rs80356536
1000 genomes	rs80356536
hgdp	rs80356536
ensembl	rs80356536
geneview	rs80356536
scholar	rs80356536
google	rs80356536
pharmgkb	rs80356536
gwascentral	rs80356536
openSNP	rs80356536
23andMe	rs80356536
SNPshot	rs80356536
SNPdbe	rs80356536
MSV3d	rs80356536
GWAS Ctlg	rs80356536

Max Magnitude

0

OMIM	182350
Desc
Variant	0005
Related	also

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	RCV000013776.27,

[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.