rs80356535

Orientation

minus

Stabilized

minus

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

Make rs80356535(G;G)

Make rs80356535(G;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41970533

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs80356535
dbSNP (classic)	rs80356535
ClinGen	rs80356535
ebi	rs80356535
HLI	rs80356535
Exac	rs80356535
Gnomad	rs80356535
Varsome	rs80356535
LitVar	rs80356535
Map	rs80356535
PheGenI	rs80356535
Biobank	rs80356535
1000 genomes	rs80356535
hgdp	rs80356535
ensembl	rs80356535
geneview	rs80356535
scholar	rs80356535
google	rs80356535
pharmgkb	rs80356535
gwascentral	rs80356535
openSNP	rs80356535
23andMe	rs80356535
SNPshot	rs80356535
SNPdbe	rs80356535
MSV3d	rs80356535
GWAS Ctlg	rs80356535

Max Magnitude

0

OMIM	182350
Desc
Variant	0004
Related	also

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 UniProtKB (protein)
CLNACC	RCV000013775.26,

[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.