rs137852288

Orientation

minus

Stabilized

minus

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

Make rs137852288(C;T)

Make rs137852288(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18893579

Gene	PHKA2, PHKA2-AS1

is a	snp
is	mentioned by
dbSNP	rs137852288
dbSNP (classic)	rs137852288
ClinGen	rs137852288
ebi	rs137852288
HLI	rs137852288
Exac	rs137852288
Gnomad	rs137852288
Varsome	rs137852288
LitVar	rs137852288
Map	rs137852288
PheGenI	rs137852288
Biobank	rs137852288
1000 genomes	rs137852288
hgdp	rs137852288
ensembl	rs137852288
geneview	rs137852288
scholar	rs137852288
google	rs137852288
pharmgkb	rs137852288
gwascentral	rs137852288
openSNP	rs137852288
23andMe	rs137852288
SNPshot	rs137852288
SNPdbe	rs137852288
MSV3d	rs137852288
GWAS Ctlg	rs137852288

Max Magnitude

0

OMIM	300798
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852288(T;T)
Alt	rs137852288(T;T)
Reference	Rs137852288(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease type IXa1
Variation	info
Gene	PHKA2 PHKA2-AS1
CLNDBN	Glycogen storage disease type IXa1
Reversed	1
HGVS	NC_000023.10:g.18911697G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011277.4,