Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519847
rs1057519847
0.020 GeneticVariation BEFREE Inclusion criteria were histologic diagnosis of benign nodule (control) and stage I or II adenocarcinoma harboring either p.L858R or exon19 delEGFR mutations. 30309763

2018

dbSNP: rs1057519848
rs1057519848
0.020 GeneticVariation BEFREE Inclusion criteria were histologic diagnosis of benign nodule (control) and stage I or II adenocarcinoma harboring either p.L858R or exon19 delEGFR mutations. 30309763

2018

dbSNP: rs121434568
rs121434568
0.020 GeneticVariation BEFREE Inclusion criteria were histologic diagnosis of benign nodule (control) and stage I or II adenocarcinoma harboring either p.L858R or exon19 delEGFR mutations. 30309763

2018

dbSNP: rs113488022
rs113488022
0.020 GeneticVariation BEFREE When microdissected and sequenced separately, one nodule was positive for BRAF (v-raf murine sarcoma viral oncogene homolog B1) V600E and the other nodule was wild type at the BRAF codon 600. 27597976

2016

dbSNP: rs121913377
rs121913377
0.020 GeneticVariation BEFREE When microdissected and sequenced separately, one nodule was positive for BRAF (v-raf murine sarcoma viral oncogene homolog B1) V600E and the other nodule was wild type at the BRAF codon 600. 27597976

2016

dbSNP: rs1057519847
rs1057519847
0.020 GeneticVariation BEFREE The coexpression of HER2 and EGFR L858R in a solitary nodule removed from the lung, whose mutation was not confirmed by molecular techniques, made us think about the possible existence of a cross-reaction between HER2 and the EGFR L858R-specific antibody. 25390349

2015

dbSNP: rs1057519848
rs1057519848
0.020 GeneticVariation BEFREE The coexpression of HER2 and EGFR L858R in a solitary nodule removed from the lung, whose mutation was not confirmed by molecular techniques, made us think about the possible existence of a cross-reaction between HER2 and the EGFR L858R-specific antibody. 25390349

2015

dbSNP: rs121434568
rs121434568
0.020 GeneticVariation BEFREE The coexpression of HER2 and EGFR L858R in a solitary nodule removed from the lung, whose mutation was not confirmed by molecular techniques, made us think about the possible existence of a cross-reaction between HER2 and the EGFR L858R-specific antibody. 25390349

2015

dbSNP: rs113488022
rs113488022
0.020 GeneticVariation BEFREE Before undergoing thyroidectomy, we performed molecular diagnostic tests that revealed the absence of BRAF(V600E) and the presence of RET/PTC-1 in one nodule and RET/PTC-3 in the two others. 21048359

2010

dbSNP: rs121913377
rs121913377
0.020 GeneticVariation BEFREE Before undergoing thyroidectomy, we performed molecular diagnostic tests that revealed the absence of BRAF(V600E) and the presence of RET/PTC-1 in one nodule and RET/PTC-3 in the two others. 21048359

2010

dbSNP: rs375878504
rs375878504
0.010 GeneticVariation BEFREE The fine-needle aspirate of the nodule was examined with next-generation sequencing and found to harbor a C228T mutation in the TERT gene, a Q61R mutation in the HRAS gene, and an A113_splice mutation in the EIF1AX gene. 29669480

2018

dbSNP: rs121434569
rs121434569
0.010 GeneticVariation BEFREE In this case report, we described a 37-year-old woman who underwent refractory after second-line gefitinib therapy and was confirmed to have SCLC transformation without the T790M mutation in the left lobar nodule, but concomitant with the plasma-genotyped EGFR T790M mutation. 28723866

2017

dbSNP: rs765808222
rs765808222
FGB
0.010 GeneticVariation BEFREE Three patients were heterozygous for different missense mutations located in the highly conserved β nodule: c.882G>C:Arg294Ser (Arg264Ser), c.1298G>T:Trp433Leu (Trp403Leu) and c.1329C>G:Asn443Lys (Asn413Lys). 28306188

2017

dbSNP: rs2069852
rs2069852
0.010 GeneticVariation BEFREE Pretransplant hepatitis B virus DNA (P = 0.014), pretransplant serum alpha-fetoprotein (P = 0.035), number of nodules (P = 0.011), diameter of main nodule (P = 0.001), macrovascular invasion (P = 0.001), microvascular invasion (P = 0.001), HCC exceeding the Milan criteria (P < 0.001), and donor rs2069852 AA genotype (P = 0.010) were associated with HCC recurrence. 27368337

2016

dbSNP: rs372043866
rs372043866
0.010 GeneticVariation BEFREE The coexpression of HER2 and EGFR L858R in a solitary nodule removed from the lung, whose mutation was not confirmed by molecular techniques, made us think about the possible existence of a cross-reaction between HER2 and the EGFR L858R-specific antibody. 25390349

2015

dbSNP: rs386352319
rs386352319
0.010 GeneticVariation BEFREE In 1 adrenal harboring the KCNJ5 p.Gly151Arg mutation in the principal nodule, the same mutation was present in 2 secondary nodules, but no mutation was found in a third nodule. 26351028

2015

dbSNP: rs121913529
rs121913529
0.010 GeneticVariation BEFREE The first case was a 72-year-old male with a nodule (12 × 10 mm) detected by CT. Macroscopically, it contained abundant mucin; histopathologically, goblet cells were predominant, whereas ciliated and basal cells were sparse.A KRAS G12V mutation was detected. 25229323

2014

dbSNP: rs121912532
rs121912532
0.010 GeneticVariation BEFREE The D578H-LHR mutation was found in the adenoma or nodule with hyperplasia in all but two patients. 21490077

2011

dbSNP: rs121908864
rs121908864
0.010 GeneticVariation BEFREE The mis-sense mutations were Met-452-->Thr in 17 cats (35 nodules), Ser-504-->Arg (two different mutational forms) in two cats (two nodules), Val-508-->Arg in one cat (three nodules), Arg-530-->Gln in one cat (two nodules), Val-557-->Leu in 13 cats (36 nodules), Thr-631-->Ala or Thr-631-->Phe (each mutation seen in one nodule of one cat), Asp-632-->Tyr in six cats (10 nodules) and Asp-632-->His in one cat (one nodule). 16135672

2005

dbSNP: rs28937584
rs28937584
0.010 GeneticVariation BEFREE The mis-sense mutations were Met-452-->Thr in 17 cats (35 nodules), Ser-504-->Arg (two different mutational forms) in two cats (two nodules), Val-508-->Arg in one cat (three nodules), Arg-530-->Gln in one cat (two nodules), Val-557-->Leu in 13 cats (36 nodules), Thr-631-->Ala or Thr-631-->Phe (each mutation seen in one nodule of one cat), Asp-632-->Tyr in six cats (10 nodules) and Asp-632-->His in one cat (one nodule). 16135672

2005

dbSNP: rs750198847
rs750198847
0.010 GeneticVariation BEFREE The mis-sense mutations were Met-452-->Thr in 17 cats (35 nodules), Ser-504-->Arg (two different mutational forms) in two cats (two nodules), Val-508-->Arg in one cat (three nodules), Arg-530-->Gln in one cat (two nodules), Val-557-->Leu in 13 cats (36 nodules), Thr-631-->Ala or Thr-631-->Phe (each mutation seen in one nodule of one cat), Asp-632-->Tyr in six cats (10 nodules) and Asp-632-->His in one cat (one nodule). 16135672

2005

dbSNP: rs764330550
rs764330550
0.010 GeneticVariation BEFREE The mis-sense mutations were Met-452-->Thr in 17 cats (35 nodules), Ser-504-->Arg (two different mutational forms) in two cats (two nodules), Val-508-->Arg in one cat (three nodules), Arg-530-->Gln in one cat (two nodules), Val-557-->Leu in 13 cats (36 nodules), Thr-631-->Ala or Thr-631-->Phe (each mutation seen in one nodule of one cat), Asp-632-->Tyr in six cats (10 nodules) and Asp-632-->His in one cat (one nodule). 16135672

2005

dbSNP: rs104894359
rs104894359
0.010 GeneticVariation BEFREE Only one point mutation could be found in the N-ras gene codon 61 (Gly to Arg) in a cold adenomatous nodule which was monoclonal. 11531932

2001

dbSNP: rs1363782162
rs1363782162
AR
0.010 GeneticVariation BEFREE Only one point mutation could be found in the N-ras gene codon 61 (Gly to Arg) in a cold adenomatous nodule which was monoclonal. 11531932

2001