rs606231428

Orientation

minus

Stabilized

minus

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

Make rs606231428(A;A)

Make rs606231428(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

41984946

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs606231428
dbSNP (classic)	rs606231428
ClinGen	rs606231428
ebi	rs606231428
HLI	rs606231428
Exac	rs606231428
Gnomad	rs606231428
Varsome	rs606231428
LitVar	rs606231428
Map	rs606231428
PheGenI	rs606231428
Biobank	rs606231428
1000 genomes	rs606231428
hgdp	rs606231428
ensembl	rs606231428
geneview	rs606231428
scholar	rs606231428
google	rs606231428
pharmgkb	rs606231428
gwascentral	rs606231428
openSNP	rs606231428
23andMe	rs606231428
SNPshot	rs606231428
SNPdbe	rs606231428
MSV3d	rs606231428
GWAS Ctlg	rs606231428

Max Magnitude

0

ClinVar
Risk	rs606231428(A;A)
Alt	rs606231428(A;A)
Reference	Rs606231428(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.42489098A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148306.1,