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rs267606949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606949(C;T)
Make rs267606949(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119726897
GenePHGDH
is asnp
is mentioned by
dbSNPrs267606949
ebirs267606949
HLIrs267606949
Exacrs267606949
Varsomers267606949
Maprs267606949
PheGenIrs267606949
hapmaprs267606949
1000 genomesrs267606949
hgdprs267606949
ensemblrs267606949
gopubmedrs267606949
geneviewrs267606949
scholarrs267606949
googlers267606949
pharmgkbrs267606949
gwascentralrs267606949
openSNPrs267606949
23andMers267606949
23andMe allrs267606949
SNP Nexus

SNPshotrs267606949
SNPdbers267606949
MSV3drs267606949
GWAS Ctlgrs267606949
Max Magnitude0
ClinVar
Risk rs267606949(A,G,T;A,G,T)
Alt rs267606949(A,G,T;A,G,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
CLNACC RCV000004074.4,