rs121907988

Orientation

plus

Stabilized

plus

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

Make rs121907988(A;A)

Make rs121907988(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119742870

Gene

PHGDH

is a	snp
is	mentioned by
dbSNP	rs121907988
dbSNP (classic)	rs121907988
ClinGen	rs121907988
ebi	rs121907988
HLI	rs121907988
Exac	rs121907988
Gnomad	rs121907988
Varsome	rs121907988
LitVar	rs121907988
Map	rs121907988
PheGenI	rs121907988
Biobank	rs121907988
1000 genomes	rs121907988
hgdp	rs121907988
ensembl	rs121907988
geneview	rs121907988
scholar	rs121907988
google	rs121907988
pharmgkb	rs121907988
gwascentral	rs121907988
openSNP	rs121907988
23andMe	rs121907988
SNPshot	rs121907988
SNPdbe	rs121907988
MSV3d	rs121907988
GWAS Ctlg	rs121907988

Max Magnitude

0

OMIM	606879
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121907988(A;A)
Alt	rs121907988(A;A)
Reference	Rs121907988(G;G)
Significance	Pathogenic
Disease	Phosphoglycerate dehydrogenase deficiency
Variation	info
Gene	PHGDH
CLNDBN	Phosphoglycerate dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.120285493G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004072.3,