rs137852547

Orientation

minus

Stabilized

minus

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

Make rs137852547(A;T)

Make rs137852547(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

72657610

Gene

PHKA1

is a	snp
is	mentioned by
dbSNP	rs137852547
dbSNP (classic)	rs137852547
ClinGen	rs137852547
ebi	rs137852547
HLI	rs137852547
Exac	rs137852547
Gnomad	rs137852547
Varsome	rs137852547
LitVar	rs137852547
Map	rs137852547
PheGenI	rs137852547
Biobank	rs137852547
1000 genomes	rs137852547
hgdp	rs137852547
ensembl	rs137852547
geneview	rs137852547
scholar	rs137852547
google	rs137852547
pharmgkb	rs137852547
gwascentral	rs137852547
openSNP	rs137852547
23andMe	rs137852547
SNPshot	rs137852547
SNPdbe	rs137852547
MSV3d	rs137852547
GWAS Ctlg	rs137852547

Max Magnitude

0

OMIM	311870
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852547(T;T)
Alt	rs137852547(T;T)
Reference	Rs137852547(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease IXd
Variation	info
Gene	PHKA1
CLNDBN	Glycogen storage disease IXd
Reversed	1
HGVS	NC_000023.10:g.71877460T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010603.5,