rs137852295

Orientation

minus

Stabilized

minus

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

Make rs137852295(A;G)

Make rs137852295(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18945131

Gene

PHKA2

is a	snp
is	mentioned by
dbSNP	rs137852295
dbSNP (classic)	rs137852295
ClinGen	rs137852295
ebi	rs137852295
HLI	rs137852295
Exac	rs137852295
Gnomad	rs137852295
Varsome	rs137852295
LitVar	rs137852295
Map	rs137852295
PheGenI	rs137852295
Biobank	rs137852295
1000 genomes	rs137852295
hgdp	rs137852295
ensembl	rs137852295
geneview	rs137852295
scholar	rs137852295
google	rs137852295
pharmgkb	rs137852295
gwascentral	rs137852295
openSNP	rs137852295
23andMe	rs137852295
SNPshot	rs137852295
SNPdbe	rs137852295
MSV3d	rs137852295
GWAS Ctlg	rs137852295

Max Magnitude

0

OMIM	300798
Desc
Variant	0015
Related	also

ClinVar
Risk	rs137852295(G;G)
Alt	rs137852295(G;G)
Reference	Rs137852295(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease IXa2
Variation	info
Gene	PHKA2
CLNDBN	Glycogen storage disease IXa2
Reversed	1
HGVS	NC_000023.10:g.18963249T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011287.9,