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rs267606948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606948(A;A)
Make rs267606948(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119741817
GenePHGDH
is asnp
is mentioned by
dbSNPrs267606948
ebirs267606948
HLIrs267606948
Exacrs267606948
Varsomers267606948
Maprs267606948
PheGenIrs267606948
hapmaprs267606948
1000 genomesrs267606948
hgdprs267606948
ensemblrs267606948
gopubmedrs267606948
geneviewrs267606948
scholarrs267606948
googlers267606948
pharmgkbrs267606948
gwascentralrs267606948
openSNPrs267606948
23andMers267606948
23andMe allrs267606948
SNP Nexus

SNPshotrs267606948
SNPdbers267606948
MSV3drs267606948
GWAS Ctlgrs267606948
Max Magnitude0
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
CLNACC RCV000004075.3,