Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917725(C;T)
Make rs121917725(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position33411697
GenePEPD
is asnp
is mentioned by
dbSNPrs121917725
dbSNP (classic)rs121917725
ClinGenrs121917725
ebirs121917725
HLIrs121917725
Exacrs121917725
Gnomadrs121917725
Varsomers121917725
LitVarrs121917725
Maprs121917725
PheGenIrs121917725
Biobankrs121917725
1000 genomesrs121917725
hgdprs121917725
ensemblrs121917725
geneviewrs121917725
scholarrs121917725
googlers121917725
pharmgkbrs121917725
gwascentralrs121917725
openSNPrs121917725
23andMers121917725
SNPshotrs121917725
SNPdbers121917725
MSV3drs121917725
GWAS Ctlgrs121917725
Max Magnitude0
OMIM613230
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121917725(G;G) rs121917725(T;T)
Alt rs121917725(G;G) rs121917725(T;T)
Reference Rs121917725(C;C)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33902603G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000239.2,