rs398122887

Orientation

minus

Stabilized

minus

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

Make rs398122887(A;A)

Make rs398122887(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41967744

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs398122887
dbSNP (classic)	rs398122887
ClinGen	rs398122887
ebi	rs398122887
HLI	rs398122887
Exac	rs398122887
Gnomad	rs398122887
Varsome	rs398122887
LitVar	rs398122887
Map	rs398122887
PheGenI	rs398122887
Biobank	rs398122887
1000 genomes	rs398122887
hgdp	rs398122887
ensembl	rs398122887
geneview	rs398122887
scholar	rs398122887
google	rs398122887
pharmgkb	rs398122887
gwascentral	rs398122887
openSNP	rs398122887
23andMe	rs398122887
SNPshot	rs398122887
SNPdbe	rs398122887
MSV3d	rs398122887
GWAS Ctlg	rs398122887

Max Magnitude

0

ClinVar
Risk	rs398122887(A;A) rs398122887(C;C)
Alt	rs398122887(A;A) rs398122887(C;C)
Reference	Rs398122887(G;G)
Significance	Pathogenic
Disease	Alternating hemiplegia of childhood 2 Hemiplegia Seizure Disorders not provided Dystonia 12
Variation	info
Gene	ATP1A3
CLNDBN	Alternating hemiplegia of childhood 2 Hemiplegia Seizure Disorders not provided Dystonia 12
Reversed	1
HGVS	NC_000019.9:g.42471896C>G; NC_000019.9:g.42471896C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000128466.5, RCV000030752.28, RCV000415180.1, RCV000418823.1, RCV000476589.1,