rs606231433

Orientation

minus

Stabilized

minus

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

Make rs606231433(C;C)

Make rs606231433(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

41981988

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs606231433
dbSNP (classic)	rs606231433
ClinGen	rs606231433
ebi	rs606231433
HLI	rs606231433
Exac	rs606231433
Gnomad	rs606231433
Varsome	rs606231433
LitVar	rs606231433
Map	rs606231433
PheGenI	rs606231433
Biobank	rs606231433
1000 genomes	rs606231433
hgdp	rs606231433
ensembl	rs606231433
geneview	rs606231433
scholar	rs606231433
google	rs606231433
pharmgkb	rs606231433
gwascentral	rs606231433
openSNP	rs606231433
23andMe	rs606231433
SNPshot	rs606231433
SNPdbe	rs606231433
MSV3d	rs606231433
GWAS Ctlg	rs606231433

Max Magnitude

0

ClinVar
Risk	rs606231433(C;C)
Alt	rs606231433(C;C)
Reference	Rs606231433(T;T)
Significance	Pathogenic
Disease	Alternating hemiplegia of childhood 2
Variation	info
Gene	ATP1A3
CLNDBN	Alternating hemiplegia of childhood 2
Reversed	1
HGVS	NC_000019.9:g.42486140A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148311.1,