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rs267606947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606947(A;A)
Make rs267606947(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119735432
GenePHGDH
is asnp
is mentioned by
dbSNPrs267606947
ebirs267606947
HLIrs267606947
Exacrs267606947
Varsomers267606947
Maprs267606947
PheGenIrs267606947
hapmaprs267606947
1000 genomesrs267606947
hgdprs267606947
ensemblrs267606947
gopubmedrs267606947
geneviewrs267606947
scholarrs267606947
googlers267606947
pharmgkbrs267606947
gwascentralrs267606947
openSNPrs267606947
23andMers267606947
23andMe allrs267606947
SNP Nexus

SNPshotrs267606947
SNPdbers267606947
MSV3drs267606947
GWAS Ctlgrs267606947
Max Magnitude0
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
CLNACC RCV000004076.3,