Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE This meta-analysis showed evidence that ELAC2 Ser217Leu and Ala541Thr polymorphisms were associated with prostate cancer risk, and might be low-penetrance susceptibility markers of prostate cancer. 20231859

2010

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE Two non-synonymous single-nucleotide polymorphisms (SNPs), Ser217Leu and Ala541Thr, in the elaC homolog 2 (Escherichia coli) (ELAC2) gene have been related to prostate cancer risk in previous studies, though with inconsistent results. 18375959

2008

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE We produced recombinant human tRNase ZL's, which contain one to three amino-acid substitutions from three missense mutations (Ser217Leu, Ala541Thr, and Arg781His) that are associated with the occurrence of prostate cancer. 15863270

2005

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE Two HPC2 gene missense variants, Ser217Leu (Leu217) and Ala541Thr (Thr541) have been associated with incident prostate cancer cases in some studies, but not in others. 14625808

2003

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE The Ala541Thr polymorphism was not associated with risk, and neither variant was associated with more aggressive prostate cancer phenotypes. 14504198

2003

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE The ELAC2 gene has been proposed to be a prostate cancer susceptibility gene and is being referred to as HPC2, in part because three case-control studies suggested that two common polymorphisms (Ser217Leu and Ala541Thr) are associated with risk. 12783937

2003

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE The candidate prostate cancer susceptibility gene HPC2/ELAC2 has two common coding polymorphisms: (Ser-->Leu 217) and (Ala-->Thr 541). 12373607

2002

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE The recently identified prostate cancer susceptibility gene ELAC2 ( HPC2) harbors two common missense variants, a serine to leucine substitution at residue 217 (Leu217) and an alanine to threonine substitution at residue 541 (Thr541). 12522685

2002

dbSNP: rs5030739
rs5030739
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.090 GeneticVariation BEFREE The prevalence of the HPC2 Ala541Thr allele was similar in men with prostate cancer (6.3%), men with other prostatic conditions (6.8%), and healthy women (6.3%) (P = .83). 11254449

2001