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rs794728007

From SNPedia

Merged intors745834191
Orientationminus
Stabilizedminus
Geno Mag Summary
(ACT;ACT) 0 common in clinvar
Make rs794728007(-;-)
Make rs794728007(-;TAC)
Make rs794728007(TAC;TAC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position33413622
GenePEPD
is asnp
is mentioned by
dbSNPrs794728007
dbSNP (old)rs794728007
ClinGenrs794728007
ebirs794728007
HLIrs794728007
Exacrs794728007
Gnomadrs794728007
Varsomers794728007
Maprs794728007
PheGenIrs794728007
Biobankrs794728007
1000 genomesrs794728007
hgdprs794728007
ensemblrs794728007
gopubmedrs794728007
geneviewrs794728007
scholarrs794728007
googlers794728007
pharmgkbrs794728007
gwascentralrs794728007
openSNPrs794728007
23andMers794728007
23andMe allrs794728007
SNP Nexus

SNPshotrs794728007
SNPdbers794728007
MSV3drs794728007
GWAS Ctlgrs794728007
StatusMerged into rs745834191
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs794728007(ACT;ACT)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33904528_33904530delGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000234.2,