rs28934002

Orientation

plus

Stabilized

plus

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

Make rs28934002(A;A)

Make rs28934002(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

160128767

Gene

ATP1A2

is a	snp
is	mentioned by
dbSNP	rs28934002
dbSNP (classic)	rs28934002
ClinGen	rs28934002
ebi	rs28934002
HLI	rs28934002
Exac	rs28934002
Gnomad	rs28934002
Varsome	rs28934002
LitVar	rs28934002
Map	rs28934002
PheGenI	rs28934002
Biobank	rs28934002
1000 genomes	rs28934002
hgdp	rs28934002
ensembl	rs28934002
geneview	rs28934002
scholar	rs28934002
google	rs28934002
pharmgkb	rs28934002
gwascentral	rs28934002
openSNP	rs28934002
23andMe	rs28934002
SNPshot	rs28934002
SNPdbe	rs28934002
MSV3d	rs28934002
GWAS Ctlg	rs28934002

Max Magnitude

0

OMIM	182340
Desc	ALTERNATING HEMIPLEGIA OF CHILDHOOD
Variant	0005
Related	also

ClinVar
Risk	rs28934002(A;A) rs28934002(T;T)
Alt	rs28934002(A;A) rs28934002(T;T)
Reference	Rs28934002(C;C)
Significance	Pathogenic
Disease	Alternating hemiplegia of childhood 1 not specified
Variation	info
Gene	ATP1A2
CLNDBN	Alternating hemiplegia of childhood 1 not specified
Reversed	0
HGVS	NC_000001.10:g.160098557C>A; NC_000001.10:g.160098557C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013784.18, RCV000429188.1,