Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907988(A;A)
Make rs121907988(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119742870
GenePHGDH
is asnp
is mentioned by
dbSNPrs121907988
ebirs121907988
HLIrs121907988
Exacrs121907988
Varsomers121907988
Maprs121907988
PheGenIrs121907988
hapmaprs121907988
1000 genomesrs121907988
hgdprs121907988
ensemblrs121907988
gopubmedrs121907988
geneviewrs121907988
scholarrs121907988
googlers121907988
pharmgkbrs121907988
gwascentralrs121907988
openSNPrs121907988
23andMers121907988
23andMe allrs121907988
SNP Nexus

SNPshotrs121907988
SNPdbers121907988
MSV3drs121907988
GWAS Ctlgrs121907988
Max Magnitude0
OMIM606879
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121907988(A;A)
Alt rs121907988(A;A)
Reference rs121907988(G;G)
Significance Pathogenic
Disease Phosphoglycerate dehydrogenase deficiency
Variation info
Gene PHGDH
CLNDBN Phosphoglycerate dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.120285493G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004072.3,