rs121907987

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a phosphoglycerate dehydrogenase deficiency mutation
(G;G)	0	common in clinvar

Make rs121907987(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119743906

Gene

PHGDH

is a	snp
is	mentioned by
dbSNP	rs121907987
dbSNP (classic)	rs121907987
ClinGen	rs121907987
ebi	rs121907987
HLI	rs121907987
Exac	rs121907987
Gnomad	rs121907987
Varsome	rs121907987
LitVar	rs121907987
Map	rs121907987
PheGenI	rs121907987
Biobank	rs121907987
1000 genomes	rs121907987
hgdp	rs121907987
ensembl	rs121907987
geneview	rs121907987
scholar	rs121907987
google	rs121907987
pharmgkb	rs121907987
gwascentral	rs121907987
openSNP	rs121907987
23andMe	rs121907987
SNPshot	rs121907987
SNPdbe	rs121907987
MSV3d	rs121907987
GWAS Ctlg	rs121907987

GMAF

0.0004591

Max Magnitude

3

aka c.1468G>A (p.Val490Met or V490M)

OMIM	606879
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121907987(A;A)
Alt	rs121907987(A;A)
Reference	Rs121907987(G;G)
Significance	Pathogenic
Disease	Phosphoglycerate dehydrogenase deficiency
Variation	info
Gene	PHGDH
CLNDBN	Phosphoglycerate dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.120286529G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004071.3,