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rs730882181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882181(-;-)
Make rs730882181(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position119735365
GenePHGDH
is asnp
is mentioned by
dbSNPrs730882181
dbSNP (old)rs730882181
ClinGenrs730882181
ebirs730882181
HLIrs730882181
Exacrs730882181
Gnomadrs730882181
Varsomers730882181
Maprs730882181
PheGenIrs730882181
Biobankrs730882181
1000 genomesrs730882181
hgdprs730882181
ensemblrs730882181
gopubmedrs730882181
geneviewrs730882181
scholarrs730882181
googlers730882181
pharmgkbrs730882181
gwascentralrs730882181
openSNPrs730882181
23andMers730882181
23andMe allrs730882181
SNP Nexus

SNPshotrs730882181
SNPdbers730882181
MSV3drs730882181
GWAS Ctlgrs730882181
Max Magnitude0
ClinVar
Risk rs730882181(-;-)
Alt rs730882181(-;-)
Reference Rs730882181(G;G)
Significance Pathogenic
Disease Phosphoglycerate dehydrogenase deficiency
Variation info
Gene PHGDH
CLNDBN Phosphoglycerate dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.120277988delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004073.3,