Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3130
rs3130
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE The T allele of CD133 rs3130 predicted a worse survival for gastric cancer patients receiving tumorectomy (hazard ratio: 1.28; 95% CI: 1.04-1.58; p = 0.020), independent from tumor node metastasis stage, vessel invasion and postoperational chemotherapy. 28326835

2017

dbSNP: rs3130
rs3130
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE In 52 patients, discordance between primary tumor and CTCs was 5.77% for KRAS, 3.85% for BRAF, 11.54% for CD133 rs3130, 7.69% for CD133 rs2286455 and 11.54% for PLS3 rs6643869 mutations. 25902072

2015

dbSNP: rs2286455
rs2286455
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE In 52 patients, discordance between primary tumor and CTCs was 5.77% for KRAS, 3.85% for BRAF, 11.54% for CD133 rs3130, 7.69% for CD133 rs2286455 and 11.54% for PLS3 rs6643869 mutations. 25902072

2015

dbSNP: rs371887194
rs371887194
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. 22534715

2012