rs1057516032

Orientation

minus

Stabilized

minus

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

Make rs1057516032(AGACT;TC)

Make rs1057516032(TC;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

41970211

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs1057516032
dbSNP (classic)	rs1057516032
ClinGen	rs1057516032
ebi	rs1057516032
HLI	rs1057516032
Exac	rs1057516032
Gnomad	rs1057516032
Varsome	rs1057516032
LitVar	rs1057516032
Map	rs1057516032
PheGenI	rs1057516032
Biobank	rs1057516032
1000 genomes	rs1057516032
hgdp	rs1057516032
ensembl	rs1057516032
geneview	rs1057516032
scholar	rs1057516032
google	rs1057516032
pharmgkb	rs1057516032
gwascentral	rs1057516032
openSNP	rs1057516032
23andMe	rs1057516032
SNPshot	rs1057516032
SNPdbe	rs1057516032
MSV3d	rs1057516032
GWAS Ctlg	rs1057516032

Max Magnitude

0

ClinVar
Risk	rs1057516032(TC;TC)
Alt	rs1057516032(TC;TC)
Reference	Rs1057516032(AGACT;AGACT)
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.42474363_42474367delAGTCTinsGA
CLNSRC
CLNACC	RCV000408604.1,