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rs797045185

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045185(G;G)
Make rs797045185(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position33391344
GenePEPD
is asnp
is mentioned by
dbSNPrs797045185
ebirs797045185
HLIrs797045185
Exacrs797045185
Varsomers797045185
Maprs797045185
PheGenIrs797045185
hapmaprs797045185
1000 genomesrs797045185
hgdprs797045185
ensemblrs797045185
gopubmedrs797045185
geneviewrs797045185
scholarrs797045185
googlers797045185
pharmgkbrs797045185
gwascentralrs797045185
openSNPrs797045185
23andMers797045185
23andMe allrs797045185
SNP Nexus

SNPshotrs797045185
SNPdbers797045185
MSV3drs797045185
GWAS Ctlgrs797045185
Max Magnitude0
ClinVar
Risk rs797045185(G;G)
Alt rs797045185(G;G)
Reference rs797045185(T;T)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33882250A>C
CLNSRC
CLNACC RCV000194259.1,