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rs121917721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917721(A;A)
Make rs121917721(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position33401862
GenePEPD
is asnp
is mentioned by
dbSNPrs121917721
ebirs121917721
HLIrs121917721
Exacrs121917721
Varsomers121917721
Maprs121917721
PheGenIrs121917721
hapmaprs121917721
1000 genomesrs121917721
hgdprs121917721
ensemblrs121917721
gopubmedrs121917721
geneviewrs121917721
scholarrs121917721
googlers121917721
pharmgkbrs121917721
gwascentralrs121917721
openSNPrs121917721
23andMers121917721
23andMe allrs121917721
SNP Nexus

SNPshotrs121917721
SNPdbers121917721
MSV3drs121917721
GWAS Ctlgrs121917721
Max Magnitude0
OMIM613230
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917721(A;A)
Alt rs121917721(A;A)
Reference rs121917721(G;G)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33892768C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000232.3,