Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4924935
rs4924935
Entrez Id: 5636
Gene Symbol: PRPSAP2
PRPSAP2
CUI: C0152018
Disease:
Esophageal carcinoma
0.010 GeneticVariation BEFREE In the genetic model analyses, we found that the minor alleles "T" of rs401681, "A" of rs10088262, and "C" of rs4924935 may reduce the risk of EC. rs401681 has previously been reported to be associated with EC. 26304507 2016
dbSNP: rs1025993235
rs1025993235
Entrez Id: 5636
Gene Symbol: PRPSAP2
PRPSAP2
CUI: C0740394
Disease:
Hyperuricemia
0.010 GeneticVariation BEFREE ZPBP2 p.T69I was at the non-conserved region and was predicted to be benign by in silico analysis, whereas GPATCH8 p.A979P was at a highly conserved region and was predicted to be deleterious, which made p.A979P a conceivable candidate for juvenile-onset hyperuricemia. 21594610 2011