rs267606949

Orientation

plus

Stabilized

plus

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

Make rs267606949(C;T)

Make rs267606949(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119726897

Gene	LOC105378936, PHGDH

is a	snp
is	mentioned by
dbSNP	rs267606949
dbSNP (classic)	rs267606949
ClinGen	rs267606949
ebi	rs267606949
HLI	rs267606949
Exac	rs267606949
Gnomad	rs267606949
Varsome	rs267606949
LitVar	rs267606949
Map	rs267606949
PheGenI	rs267606949
Biobank	rs267606949
1000 genomes	rs267606949
hgdp	rs267606949
ensembl	rs267606949
geneview	rs267606949
scholar	rs267606949
google	rs267606949
pharmgkb	rs267606949
gwascentral	rs267606949
openSNP	rs267606949
23andMe	rs267606949
SNPshot	rs267606949
SNPdbe	rs267606949
MSV3d	rs267606949
GWAS Ctlg	rs267606949

Max Magnitude

0

ClinVar
Risk	rs267606949(A;A) rs267606949(G;G) rs267606949(T;T)
Alt	rs267606949(A;A) rs267606949(G;G) rs267606949(T;T)
Reference	Rs267606949(C;C)
Significance	Pathogenic
Disease	Phosphoglycerate dehydrogenase deficiency
Variation	info
Gene	PHGDH
CLNDBN	Phosphoglycerate dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.120269520C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004074.4,