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rs267606944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606944(A;A)
Make rs267606944(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position33388000
GenePEPD
is asnp
is mentioned by
dbSNPrs267606944
ebirs267606944
HLIrs267606944
Exacrs267606944
Varsomers267606944
Maprs267606944
PheGenIrs267606944
hapmaprs267606944
1000 genomesrs267606944
hgdprs267606944
ensemblrs267606944
gopubmedrs267606944
geneviewrs267606944
scholarrs267606944
googlers267606944
pharmgkbrs267606944
gwascentralrs267606944
openSNPrs267606944
23andMers267606944
23andMe allrs267606944
SNP Nexus

SNPshotrs267606944
SNPdbers267606944
MSV3drs267606944
GWAS Ctlgrs267606944
Max Magnitude0
ClinVar
Risk rs267606944(A;A)
Alt rs267606944(A;A)
Reference rs267606944(G;G)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33878906C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000240.2,