rs534926223

Orientation

plus

Stabilized

plus

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

Make rs534926223(C;C)

Make rs534926223(C;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

41970490

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs534926223
dbSNP (classic)	rs534926223
ClinGen	rs534926223
ebi	rs534926223
HLI	rs534926223
Exac	rs534926223
Gnomad	rs534926223
Varsome	rs534926223
LitVar	rs534926223
Map	rs534926223
PheGenI	rs534926223
Biobank	rs534926223
1000 genomes	rs534926223
hgdp	rs534926223
ensembl	rs534926223
geneview	rs534926223
scholar	rs534926223
google	rs534926223
pharmgkb	rs534926223
gwascentral	rs534926223
openSNP	rs534926223
23andMe	rs534926223
SNPshot	rs534926223
SNPdbe	rs534926223
MSV3d	rs534926223
GWAS Ctlg	rs534926223

Max Magnitude

0

ClinVar
Risk	rs534926223(C;C) rs534926223(T;T)
Alt	rs534926223(C;C) rs534926223(T;T)
Reference	Rs534926223(G;G)
Significance	Pathogenic
Disease	Alternating hemiplegia of childhood 2
Variation	info
Gene	ATP1A3
CLNDBN	Alternating hemiplegia of childhood 2
Reversed	0
HGVS	NC_000019.9:g.42474642G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148318.1,