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rs121917724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917724(A;A)
Make rs121917724(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position33387892
GenePEPD
is asnp
is mentioned by
dbSNPrs121917724
ebirs121917724
HLIrs121917724
Exacrs121917724
Varsomers121917724
Maprs121917724
PheGenIrs121917724
hapmaprs121917724
1000 genomesrs121917724
hgdprs121917724
ensemblrs121917724
gopubmedrs121917724
geneviewrs121917724
scholarrs121917724
googlers121917724
pharmgkbrs121917724
gwascentralrs121917724
openSNPrs121917724
23andMers121917724
23andMe allrs121917724
SNP Nexus

SNPshotrs121917724
SNPdbers121917724
MSV3drs121917724
GWAS Ctlgrs121917724
Max Magnitude0
OMIM613230
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121917724(A;A)
Alt rs121917724(A;A)
Reference rs121917724(G;G)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33878798C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000237.5,