rs587776731

Orientation

plus

Stabilized

minus

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

Make rs587776731(A;A)

Make rs587776731(A;C)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18943709

Gene

PHKA2

is a	snp
is	mentioned by
dbSNP	rs587776731
dbSNP (classic)	rs587776731
ClinGen	rs587776731
ebi	rs587776731
HLI	rs587776731
Exac	rs587776731
Gnomad	rs587776731
Varsome	rs587776731
LitVar	rs587776731
Map	rs587776731
PheGenI	rs587776731
Biobank	rs587776731
1000 genomes	rs587776731
hgdp	rs587776731
ensembl	rs587776731
geneview	rs587776731
scholar	rs587776731
google	rs587776731
pharmgkb	rs587776731
gwascentral	rs587776731
openSNP	rs587776731
23andMe	rs587776731
SNPshot	rs587776731
SNPdbe	rs587776731
MSV3d	rs587776731
GWAS Ctlg	rs587776731

Max Magnitude

0

ClinVar
Risk	rs587776731(A;A) Rs587776731(C;C)
Alt	rs587776731(A;A) Rs587776731(C;C)
Reference	Rs587776731(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease type IXa1
Variation	info
Gene	PHKA2
CLNDBN	Glycogen storage disease type IXa1
Reversed	1
HGVS	NC_000023.10:g.18961827C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011275.6,