Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10505477
rs10505477
0.010 GeneticVariation BEFREE Stratified analysis by histological lesion revealed the association of rs10505477 and rs6983267 variants with reduced risk of low- and high-risk adenomas in controls, being this effect stronger in low-risk adenomas (log-additive models, OR:0.63, 95%CI:0.47-0.84 and OR:0.64, 95%CI:0.47-0.86, respectively). 30194776

2019

dbSNP: rs10795668
rs10795668
0.010 GeneticVariation BEFREE Moreover, 2 SNPs (rs10795668, rs11255841) in the noncoding LINC00709 gene were significantly associated with a reduced risk of low-risk adenomas in cases (recessive models, OR:0.22, 95%CI:0.06-0.72, and OR:0.08, 95%CI:0.03-0.61) and controls (dominant models, OR:0.50, 95%CI:0.34-0.75, and OR:0.52, 95%CI:0.35-0.78, respectively). 30194776

2019

dbSNP: rs11255841
rs11255841
0.010 GeneticVariation BEFREE Moreover, 2 SNPs (rs10795668, rs11255841) in the noncoding LINC00709 gene were significantly associated with a reduced risk of low-risk adenomas in cases (recessive models, OR:0.22, 95%CI:0.06-0.72, and OR:0.08, 95%CI:0.03-0.61) and controls (dominant models, OR:0.50, 95%CI:0.34-0.75, and OR:0.52, 95%CI:0.35-0.78, respectively). 30194776

2019

dbSNP: rs142287570
rs142287570
0.010 GeneticVariation BEFREE Activating GCM2 CCID variants (p.V382M and p.Y394S) were identified in six of 396 adenomas (1.52%), and a hyperparathyroidism-associated GCM2 non-CCID activating variant (p.Y282D) was found in 20 adenomas (5.05%). 30624640

2019

dbSNP: rs150766139
rs150766139
0.010 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019

dbSNP: rs371918069
rs371918069
0.010 GeneticVariation BEFREE Activating GCM2 CCID variants (p.V382M and p.Y394S) were identified in six of 396 adenomas (1.52%), and a hyperparathyroidism-associated GCM2 non-CCID activating variant (p.Y282D) was found in 20 adenomas (5.05%). 30624640

2019

dbSNP: rs61734277
rs61734277
0.010 GeneticVariation BEFREE Activating GCM2 CCID variants (p.V382M and p.Y394S) were identified in six of 396 adenomas (1.52%), and a hyperparathyroidism-associated GCM2 non-CCID activating variant (p.Y282D) was found in 20 adenomas (5.05%). 30624640

2019

dbSNP: rs1201299
rs1201299
0.010 GeneticVariation BEFREE At rs1201299 in ADIPOQ, the AC genotype had a higher risk (OR 1.58, 95%CI 1.00-2.49) of adenomas, while the minor AA genotype had a borderline inverse association (OR 0.44, 95%CI 0.18-1.08; reference: CC). 29802748

2018

dbSNP: rs1927911
rs1927911
0.010 GeneticVariation BEFREE Three TLR4 tagSNPs (rs10116253, rs1927911, rs7873784) were associated with adenomas among obese participants. 29802748

2018

dbSNP: rs7873784
rs7873784
0.010 GeneticVariation BEFREE Three TLR4 tagSNPs (rs10116253, rs1927911, rs7873784) were associated with adenomas among obese participants. 29802748

2018

dbSNP: rs121913279
rs121913279
0.010 GeneticVariation BEFREE Here we report measurements of PIK3CA H1047R mutant fraction (MF) in normal colonic mucosa, normal lung, colonic adenomas, colonic adenocarcinomas, and lung adenocarcinomas. 28755461

2017

dbSNP: rs121913409
rs121913409
0.010 GeneticVariation BEFREE Four APAs showed a predominant (≥50%) zona fasciculata-like cell pattern: one tumor had CYP11B1 H-score = 150, no detectable CYP11B2 expression, and harbored a PRKACA p.Leu206Arg mutation (that we have reported previously elsewhere), one had no CYP11B1 expression, CYP11B2 H-score = 40, and no mutations; the remaining two adenomas had high CYP11B1 H-score (160 and 240, respectively) and low CYP11B2 H-score (30 and 15, respectively), with the latter harboring a CTNNB1 p.Ser45Phe activating mutation. 28405879

2017

dbSNP: rs2720574
rs2720574
0.010 GeneticVariation BEFREE The P values for interactions between calcium:magnesium intake ratio and rs2720574 were .002 for all adenomas and <.001 for multiple/advanced adenoma. 28501704

2017

dbSNP: rs386834263
rs386834263
0.010 GeneticVariation BEFREE A zona glomerulosa-like APA harbored a known CACNA1D G403R somatic mutation, whereas a zona reticularis-like adenoma, which was grossly black in pigmentation with histologic characteristics more associated with cortisol-producing adenomas, expressed CYP11B2, CYP17, and DHEA-ST by immunohistochemistry (IHC) and harbored no known somatic mutations. 28368480

2017

dbSNP: rs4952490
rs4952490
0.010 GeneticVariation BEFREE We found an inverse association between calcium intake (1000-2000 mg/day) and colorectal adenomas, particularly for multiple/advanced adenomas, among the G-allele carriers but not among homozygous carriers of the common variant (A) in rs4952490. 28544176

2017

dbSNP: rs731236
rs731236
VDR
0.010 GeneticVariation BEFREE The effect of vitamin D3 supplementation on advanced adenomas, but not on adenoma risk overall, significantly varied according to genotype at 2 VDR SNPs (rs7968585 and rs731236) in linkage disequilibrium (D' = 0.98; r2 = 0.6). 27978548

2017

dbSNP: rs7968585
rs7968585
0.010 GeneticVariation BEFREE The effect of vitamin D3 supplementation on advanced adenomas, but not on adenoma risk overall, significantly varied according to genotype at 2 VDR SNPs (rs7968585 and rs731236) in linkage disequilibrium (D' = 0.98; r2 = 0.6). 27978548

2017

dbSNP: rs2959656
rs2959656
0.010 GeneticVariation BEFREE We discovered a significant association (OR=17.8, CI 0.95=2.18-145.5, P=0.0002) between a rare MEN1 mutation (rs2959656) and clinically active adenoma in our patients. 27185868

2016

dbSNP: rs7131056
rs7131056
0.010 GeneticVariation BEFREE Furthermore, rs7131056 in DRD2 contributes to either faster growth of the adenoma or reduced symptomatic presentation, allowing PAs to become larger before detection. 27185868

2016

dbSNP: rs1268298845
rs1268298845
APC
0.010 GeneticVariation BEFREE A multivariable model showed positive correlation between G396D, Y179C and 1186 ins GG mutations and number of adenomas (OR 8.6, 10.2 and 14.4, respectively). 25822476

2015

dbSNP: rs1290398674
rs1290398674
0.010 GeneticVariation BEFREE The hyperplastic gland showed a PRKACA(L206R) mutation, while patients with bilateral adenomas did not have known somatic mutations. 25750087

2015

dbSNP: rs146462069
rs146462069
0.010 GeneticVariation BEFREE Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. 25527509

2015

dbSNP: rs3802842
rs3802842
0.010 GeneticVariation BEFREE The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation. 24801760

2015

dbSNP: rs121918464
rs121918464
0.010 GeneticVariation BEFREE Atypical adenomatous hyperplasia and small adenomas were observed in CCSP-rtTA/tetO-SHP2(E76K) bitransgenic mice induced with Dox for 2-6 months and progressed to larger adenoma and adenocarcinoma by 9 months. 24480804

2014

dbSNP: rs2855798
rs2855798
0.010 GeneticVariation BEFREE In combined analysis of phases I and II, the P values for interactions between calcium intake and rs2855798 were 1 × 10(-4) for all adenoma and 5 × 10(-3) for multiple/advanced adenoma. 25165391

2014