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rs121907987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907987(A;A)
Make rs121907987(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119743906
GenePHGDH
is asnp
is mentioned by
dbSNPrs121907987
ebirs121907987
HLIrs121907987
Exacrs121907987
Varsomers121907987
Maprs121907987
PheGenIrs121907987
hapmaprs121907987
1000 genomesrs121907987
hgdprs121907987
ensemblrs121907987
gopubmedrs121907987
geneviewrs121907987
scholarrs121907987
googlers121907987
pharmgkbrs121907987
gwascentralrs121907987
openSNPrs121907987
23andMers121907987
23andMe allrs121907987
SNP Nexus

SNPshotrs121907987
SNPdbers121907987
MSV3drs121907987
GWAS Ctlgrs121907987
GMAF0.0004591
Max Magnitude0
OMIM606879
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121907987(A;A)
Alt rs121907987(A;A)
Reference rs121907987(G;G)
Significance Pathogenic
Disease Phosphoglycerate dehydrogenase deficiency
Variation info
Gene PHGDH
CLNDBN Phosphoglycerate dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.120286529G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004071.3,