Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117856857
rs117856857
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm
0.010 GeneticVariation BEFREE The G allele at rs117856857 was associated with the presence of gallbladder tumors (p = 0.019) and with MYC expression (p = 0.044). 25200035

2015

dbSNP: rs2070583
rs2070583
MYC
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation BEFREE We also identified a SNP achieving array wide significance (MYC: rs2070583, allele frequency 0.02, P = 8.1 × 10(-8)), but the association did not replicate in an additional 8,059 African Americans (577 events) from the WHI, HealthABC and GeneSTAR studies, and in a meta-analysis of 5 cohort studies of European ancestry (24,024 individuals including 1,570 cases of MI and 2,406 cases of CHD) from the CHARGE Consortium. 25542012

2014

dbSNP: rs2071346
rs2071346
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.010 GeneticVariation BEFREE We also found rs2071346 (G>T) variant genotype carriers were subjected to higher risk of anemia (GT <i>vs</i> GG, OR=1.665, P=0.022) and thrombocytopenia (GT <i>vs</i> GG, OR=1.685, P=0.035). 30662535

2019

dbSNP: rs2071346
rs2071346
CUI: C0002871
Disease: Anemia
Anemia
0.010 GeneticVariation BEFREE We also found rs2071346 (G>T) variant genotype carriers were subjected to higher risk of anemia (GT <i>vs</i> GG, OR=1.665, P=0.022) and thrombocytopenia (GT <i>vs</i> GG, OR=1.685, P=0.035). 30662535

2019

dbSNP: rs2071346
rs2071346
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE We found two SNPs rs4645948 (C>T) and rs2071346 (G>T) were significantly associated with increased risk of developing NPC (TT+CT <i>vs</i> CC, OR=1.557, P=3.34×10<sup>-4</sup>; TT+GT <i>vs</i> GG, OR=1.361, P=0.007, respectively). 30662535

2019

dbSNP: rs28933407
rs28933407
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Moreover, two tumors presented a pathogenic mutation in MYC exon 2 (rs28933407). 25200035

2015

dbSNP: rs3824120
rs3824120
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE We determined that one SNP allele (rs3824120) in a CpG island associated with MYC which eliminated a CpG was more common in the cancer datasets than in the 100Genomes databases (p < 0.01). 27074591

2016

dbSNP: rs3824120
rs3824120
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We determined that one SNP allele (rs3824120) in a CpG island associated with MYC which eliminated a CpG was more common in the cancer datasets than in the 100Genomes databases (p < 0.01). 27074591

2016

dbSNP: rs4645948
rs4645948
CUI: C0002871
Disease: Anemia
Anemia
0.010 GeneticVariation BEFREE In addition, rs4645948 (C>T) was conferred with increased risk of anemia (CT <i>vs</i> CC, OR=2.152, P=0.001) and severe leukopenia (CT <i>vs</i> CC, OR=1.893, P=0.034) for NPC patients receiving chemoradiotherapy. 30662535

2019

dbSNP: rs4645948
rs4645948
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 GeneticVariation BEFREE In addition, rs4645948 (C>T) was conferred with increased risk of anemia (CT <i>vs</i> CC, OR=2.152, P=0.001) and severe leukopenia (CT <i>vs</i> CC, OR=1.893, P=0.034) for NPC patients receiving chemoradiotherapy. 30662535

2019

dbSNP: rs4645948
rs4645948
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE These findings suggested that individual carrying the rs4645948 T allele may be at greater risk for NPC due to an increase of MYC transcriptional activity and an augment of MYC expression. 30662535

2019

dbSNP: rs4645959
rs4645959
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE A joint analysis of the Polish and the German study population revealed a 54% increased risk for breast cancer associated with the heterozygous Asn11Ser variant (OR = 1.54, 95% CI 1.05-2.26, p = 0.028). 15929079

2005

dbSNP: rs4645959
rs4645959
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE A joint analysis of the Polish and the German study population revealed a 54% increased risk for breast cancer associated with the heterozygous Asn11Ser variant (OR = 1.54, 95% CI 1.05-2.26, p = 0.028). 15929079

2005

dbSNP: rs4645959
rs4645959
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 GeneticVariation BEFREE Here, we analysed the influence of the rare c-MYC Asn11Ser polymorphism on familial breast cancer risk by performing a case-control study with a Polish (cases n = 349; controls n = 441) and a German (cases n = 356; controls n = 655) study population. 15929079

2005

dbSNP: rs747141352
rs747141352
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.010 GeneticVariation BEFREE Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. 25044415

2014

dbSNP: rs747141352
rs747141352
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.010 GeneticVariation BEFREE Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. 25044415

2014

dbSNP: rs747141352
rs747141352
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
0.010 GeneticVariation BEFREE Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. 25044415

2014