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

rs121917722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917722(A;A)
Make rs121917722(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position33464060
GenePEPD
is asnp
is mentioned by
dbSNPrs121917722
dbSNP (classic)rs121917722
ClinGenrs121917722
ebirs121917722
HLIrs121917722
Exacrs121917722
Gnomadrs121917722
Varsomers121917722
LitVarrs121917722
Maprs121917722
PheGenIrs121917722
Biobankrs121917722
1000 genomesrs121917722
hgdprs121917722
ensemblrs121917722
geneviewrs121917722
scholarrs121917722
googlers121917722
pharmgkbrs121917722
gwascentralrs121917722
openSNPrs121917722
23andMers121917722
SNPshotrs121917722
SNPdbers121917722
MSV3drs121917722
GWAS Ctlgrs121917722
Max Magnitude0
OMIM613230
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917722(A;A)
Alt rs121917722(A;A)
Reference Rs121917722(G;G)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33954966C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000235.4,