rs137852285

Orientation

minus

Stabilized

minus

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

Make rs137852285(C;T)

Make rs137852285(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18901487

Gene

PHKA2

is a	snp
is	mentioned by
dbSNP	rs137852285
dbSNP (classic)	rs137852285
ClinGen	rs137852285
ebi	rs137852285
HLI	rs137852285
Exac	rs137852285
Gnomad	rs137852285
Varsome	rs137852285
LitVar	rs137852285
Map	rs137852285
PheGenI	rs137852285
Biobank	rs137852285
1000 genomes	rs137852285
hgdp	rs137852285
ensembl	rs137852285
geneview	rs137852285
scholar	rs137852285
google	rs137852285
pharmgkb	rs137852285
gwascentral	rs137852285
openSNP	rs137852285
23andMe	rs137852285
SNPshot	rs137852285
SNPdbe	rs137852285
MSV3d	rs137852285
GWAS Ctlg	rs137852285

Max Magnitude

0

OMIM	300798
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852285(T;T)
Alt	rs137852285(T;T)
Reference	Rs137852285(C;C)
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.18919605G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011273.3,