rs267606948

Orientation

plus

Stabilized

plus

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

Make rs267606948(A;A)

Make rs267606948(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119741817

Gene

PHGDH

is a	snp
is	mentioned by
dbSNP	rs267606948
dbSNP (classic)	rs267606948
ClinGen	rs267606948
ebi	rs267606948
HLI	rs267606948
Exac	rs267606948
Gnomad	rs267606948
Varsome	rs267606948
LitVar	rs267606948
Map	rs267606948
PheGenI	rs267606948
Biobank	rs267606948
1000 genomes	rs267606948
hgdp	rs267606948
ensembl	rs267606948
geneview	rs267606948
scholar	rs267606948
google	rs267606948
pharmgkb	rs267606948
gwascentral	rs267606948
openSNP	rs267606948
23andMe	rs267606948
SNPshot	rs267606948
SNPdbe	rs267606948
MSV3d	rs267606948
GWAS Ctlg	rs267606948

Max Magnitude

0

ClinVar
Risk	rs267606948(A;A)
Alt	rs267606948(A;A)
Reference	Rs267606948(G;G)
Significance	Pathogenic
Disease	Phosphoglycerate dehydrogenase deficiency
Variation	info
Gene	PHGDH
CLNDBN	Phosphoglycerate dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.120284440G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004075.3,