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rs267606943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606943(C;T)
Make rs267606943(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position33464006
GenePEPD
is asnp
is mentioned by
dbSNPrs267606943
ebirs267606943
HLIrs267606943
Exacrs267606943
Varsomers267606943
Maprs267606943
PheGenIrs267606943
hapmaprs267606943
1000 genomesrs267606943
hgdprs267606943
ensemblrs267606943
gopubmedrs267606943
geneviewrs267606943
scholarrs267606943
googlers267606943
pharmgkbrs267606943
gwascentralrs267606943
openSNPrs267606943
23andMers267606943
23andMe allrs267606943
SNP Nexus

SNPshotrs267606943
SNPdbers267606943
MSV3drs267606943
GWAS Ctlgrs267606943
Max Magnitude0
ClinVar
Risk rs267606943(T;T)
Alt rs267606943(T;T)
Reference rs267606943(C;C)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33954912G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000242.2,