rs137852529

Orientation

plus

Stabilized

plus

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

Make rs137852529(C;C)

Make rs137852529(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78118146

Gene

PGK1

is a	snp
is	mentioned by
dbSNP	rs137852529
dbSNP (classic)	rs137852529
ClinGen	rs137852529
ebi	rs137852529
HLI	rs137852529
Exac	rs137852529
Gnomad	rs137852529
Varsome	rs137852529
LitVar	rs137852529
Map	rs137852529
PheGenI	rs137852529
Biobank	rs137852529
1000 genomes	rs137852529
hgdp	rs137852529
ensembl	rs137852529
geneview	rs137852529
scholar	rs137852529
google	rs137852529
pharmgkb	rs137852529
gwascentral	rs137852529
openSNP	rs137852529
23andMe	rs137852529
SNPshot	rs137852529
SNPdbe	rs137852529
MSV3d	rs137852529
GWAS Ctlg	rs137852529

Max Magnitude

0

OMIM	311800
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852529(C;C)
Alt	rs137852529(C;C)
Reference	Rs137852529(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.77373643G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010621.2,