rs267606947

Orientation

plus

Stabilized

plus

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

Make rs267606947(A;A)

Make rs267606947(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119735432

Gene

PHGDH

is a	snp
is	mentioned by
dbSNP	rs267606947
dbSNP (classic)	rs267606947
ClinGen	rs267606947
ebi	rs267606947
HLI	rs267606947
Exac	rs267606947
Gnomad	rs267606947
Varsome	rs267606947
LitVar	rs267606947
Map	rs267606947
PheGenI	rs267606947
Biobank	rs267606947
1000 genomes	rs267606947
hgdp	rs267606947
ensembl	rs267606947
geneview	rs267606947
scholar	rs267606947
google	rs267606947
pharmgkb	rs267606947
gwascentral	rs267606947
openSNP	rs267606947
23andMe	rs267606947
SNPshot	rs267606947
SNPdbe	rs267606947
MSV3d	rs267606947
GWAS Ctlg	rs267606947

Max Magnitude

0

ClinVar
Risk	rs267606947(A;A)
Alt	rs267606947(A;A)
Reference	Rs267606947(G;G)
Significance	Pathogenic
Disease	Phosphoglycerate dehydrogenase deficiency
Variation	info
Gene	PHGDH
CLNDBN	Phosphoglycerate dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.120278055G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004076.3,