rs137852293

Orientation

minus

Stabilized

minus

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

Make rs137852293(C;T)

Make rs137852293(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18894400

Gene	PHKA2, PHKA2-AS1

is a	snp
is	mentioned by
dbSNP	rs137852293
dbSNP (classic)	rs137852293
ClinGen	rs137852293
ebi	rs137852293
HLI	rs137852293
Exac	rs137852293
Gnomad	rs137852293
Varsome	rs137852293
LitVar	rs137852293
Map	rs137852293
PheGenI	rs137852293
Biobank	rs137852293
1000 genomes	rs137852293
hgdp	rs137852293
ensembl	rs137852293
geneview	rs137852293
scholar	rs137852293
google	rs137852293
pharmgkb	rs137852293
gwascentral	rs137852293
openSNP	rs137852293
23andMe	rs137852293
SNPshot	rs137852293
SNPdbe	rs137852293
MSV3d	rs137852293
GWAS Ctlg	rs137852293

Max Magnitude

0

OMIM	300798
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137852293(T;T)
Alt	rs137852293(T;T)
Reference	Rs137852293(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease IXa2
Variation	info
Gene	PHKA2 PHKA2-AS1
CLNDBN	Glycogen storage disease IXa2
Reversed	1
HGVS	NC_000023.10:g.18912518G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011279.4,