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rs794728008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728008(-;AGGCCCACCGTGA)
Make rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position33463987
GenePEPD
is asnp
is mentioned by
dbSNPrs794728008
dbSNP (old)rs794728008
ClinGenrs794728008
ebirs794728008
HLIrs794728008
Exacrs794728008
Gnomadrs794728008
Varsomers794728008
Maprs794728008
PheGenIrs794728008
Biobankrs794728008
1000 genomesrs794728008
hgdprs794728008
ensemblrs794728008
gopubmedrs794728008
geneviewrs794728008
scholarrs794728008
googlers794728008
pharmgkbrs794728008
gwascentralrs794728008
openSNPrs794728008
23andMers794728008
23andMe allrs794728008
SNP Nexus

SNPshotrs794728008
SNPdbers794728008
MSV3drs794728008
GWAS Ctlgrs794728008
Max Magnitude0
ClinVar
Risk rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
Alt rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
Reference Rs794728008(-;-)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33954894_33954906dupTCACGGTGGGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000241.2,