rs542652468

Orientation

plus

Stabilized

plus

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

Make rs542652468(G;T)

Make rs542652468(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

41986177

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs542652468
dbSNP (classic)	rs542652468
ClinGen	rs542652468
ebi	rs542652468
HLI	rs542652468
Exac	rs542652468
Gnomad	rs542652468
Varsome	rs542652468
LitVar	rs542652468
Map	rs542652468
PheGenI	rs542652468
Biobank	rs542652468
1000 genomes	rs542652468
hgdp	rs542652468
ensembl	rs542652468
geneview	rs542652468
scholar	rs542652468
google	rs542652468
pharmgkb	rs542652468
gwascentral	rs542652468
openSNP	rs542652468
23andMe	rs542652468
SNPshot	rs542652468
SNPdbe	rs542652468
MSV3d	rs542652468
GWAS Ctlg	rs542652468

Max Magnitude

0

ClinVar
Risk	rs542652468(A;A) rs542652468(T;T)
Alt	rs542652468(A;A) rs542652468(T;T)
Reference	Rs542652468(G;G)
Significance	Pathogenic
Disease	Alternating hemiplegia of childhood 2 Abnormality of earlobe Depressed nasal bridge Epicanthus Seizures Ventriculomegaly
Variation	info
Gene	ATP1A3
CLNDBN	Alternating hemiplegia of childhood 2 Abnormality of earlobe Depressed nasal bridge Epicanthus Seizures Ventriculomegaly
Reversed	0
HGVS	NC_000019.9:g.42490329G>A; NC_000019.9:g.42490329G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148303.1, RCV000414799.1, RCV000148302.1,