rs557052809

Orientation

plus

Stabilized

plus

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

Make rs557052809(C;T)

Make rs557052809(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

41975629

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs557052809
dbSNP (classic)	rs557052809
ClinGen	rs557052809
ebi	rs557052809
HLI	rs557052809
Exac	rs557052809
Gnomad	rs557052809
Varsome	rs557052809
LitVar	rs557052809
Map	rs557052809
PheGenI	rs557052809
Biobank	rs557052809
1000 genomes	rs557052809
hgdp	rs557052809
ensembl	rs557052809
geneview	rs557052809
scholar	rs557052809
google	rs557052809
pharmgkb	rs557052809
gwascentral	rs557052809
openSNP	rs557052809
23andMe	rs557052809
SNPshot	rs557052809
SNPdbe	rs557052809
MSV3d	rs557052809
GWAS Ctlg	rs557052809

Max Magnitude

0

ClinVar
Risk	rs557052809(A;A) rs557052809(T;T)
Alt	rs557052809(A;A) rs557052809(T;T)
Reference	Rs557052809(C;C)
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.42479781C>A; NC_000019.9:g.42479781C>T
CLNSRC	ClinVar
CLNACC	RCV000148314.1, RCV000148313.1,