rs137852528

Orientation

plus

Stabilized

plus

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

Make rs137852528(A;A)

Make rs137852528(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78123240

Gene

PGK1

is a	snp
is	mentioned by
dbSNP	rs137852528
dbSNP (classic)	rs137852528
ClinGen	rs137852528
ebi	rs137852528
HLI	rs137852528
Exac	rs137852528
Gnomad	rs137852528
Varsome	rs137852528
LitVar	rs137852528
Map	rs137852528
PheGenI	rs137852528
Biobank	rs137852528
1000 genomes	rs137852528
hgdp	rs137852528
ensembl	rs137852528
geneview	rs137852528
scholar	rs137852528
google	rs137852528
pharmgkb	rs137852528
gwascentral	rs137852528
openSNP	rs137852528
23andMe	rs137852528
SNPshot	rs137852528
SNPdbe	rs137852528
MSV3d	rs137852528
GWAS Ctlg	rs137852528

Max Magnitude

0

OMIM	311800
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852528(A;A)
Alt	rs137852528(A;A)
Reference	Rs137852528(G;G)
Significance	Pathogenic
Disease	Phosphoglycerate kinase 1 deficiency
Variation	info
Gene	PGK1
CLNDBN	Phosphoglycerate kinase 1 deficiency
Reversed	0
HGVS	NC_000023.10:g.77378737G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010620.3,