rs387907282

Orientation

minus

Stabilized

minus

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

Make rs387907282(C;C)

Make rs387907282(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41970296

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs387907282
dbSNP (classic)	rs387907282
ClinGen	rs387907282
ebi	rs387907282
HLI	rs387907282
Exac	rs387907282
Gnomad	rs387907282
Varsome	rs387907282
LitVar	rs387907282
Map	rs387907282
PheGenI	rs387907282
Biobank	rs387907282
1000 genomes	rs387907282
hgdp	rs387907282
ensembl	rs387907282
geneview	rs387907282
scholar	rs387907282
google	rs387907282
pharmgkb	rs387907282
gwascentral	rs387907282
openSNP	rs387907282
23andMe	rs387907282
SNPshot	rs387907282
SNPdbe	rs387907282
MSV3d	rs387907282
GWAS Ctlg	rs387907282

Max Magnitude

0

ClinVar
Risk	rs387907282(C;C)
Alt	rs387907282(C;C)
Reference	Rs387907282(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.42474448A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030751.25,