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rs121917723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917723(A;A)
Make rs121917723(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position33401855
GenePEPD
is asnp
is mentioned by
dbSNPrs121917723
ebirs121917723
HLIrs121917723
Exacrs121917723
Varsomers121917723
Maprs121917723
PheGenIrs121917723
hapmaprs121917723
1000 genomesrs121917723
hgdprs121917723
ensemblrs121917723
gopubmedrs121917723
geneviewrs121917723
scholarrs121917723
googlers121917723
pharmgkbrs121917723
gwascentralrs121917723
openSNPrs121917723
23andMers121917723
23andMe allrs121917723
SNP Nexus

SNPshotrs121917723
SNPdbers121917723
MSV3drs121917723
GWAS Ctlgrs121917723
Max Magnitude0
OMIM613230
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121917723(A;A)
Alt rs121917723(A;A)
Reference rs121917723(G;G)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33892761C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000236.4,