Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
0.060 GeneticVariation BEFREE Expressions of BRAF V600E mutated protein were confirmed in four thyroid (papillary and undifferentiated) carcinoma cell lines. 26403329

2015
dbSNP: rs113488022
rs113488022
BRAF
0.060 GeneticVariation BEFREE The BRAF V600E mutation was detected in 68 % (71/104) of papillary carcinoma cases and 78 % (7/9) of anaplastic carcinoma cases. 25894433

2015
dbSNP: rs121913377
rs121913377
BRAF
0.060 GeneticVariation BEFREE Expressions of BRAF V600E mutated protein were confirmed in four thyroid (papillary and undifferentiated) carcinoma cell lines. 26403329

2015
dbSNP: rs121913377
rs121913377
BRAF
0.060 GeneticVariation BEFREE The BRAF V600E mutation was detected in 68 % (71/104) of papillary carcinoma cases and 78 % (7/9) of anaplastic carcinoma cases. 25894433

2015
dbSNP: rs113488022
rs113488022
BRAF
0.060 GeneticVariation BEFREE All three papillary carcinomas accompanied by anaplastic carcinoma with a BRAF V600E mutation were also shown to have a BRAF V600E mutation. 17453004

2007
dbSNP: rs113488022
rs113488022
BRAF
0.060 GeneticVariation BEFREE The missense point mutation BRAF(V600E) was identified in 42% (13/31 cases) of papillary carcinomas and 33% (5/15 cases) of undifferentiated carcinomas but not in normal thyroid tissues, nodular hyperplasia, follicular adenomas, or follicular carcinomas. 17714762

2007
dbSNP: rs121913377
rs121913377
BRAF
0.060 GeneticVariation BEFREE The missense point mutation BRAF(V600E) was identified in 42% (13/31 cases) of papillary carcinomas and 33% (5/15 cases) of undifferentiated carcinomas but not in normal thyroid tissues, nodular hyperplasia, follicular adenomas, or follicular carcinomas. 17714762

2007
dbSNP: rs121913377
rs121913377
BRAF
0.060 GeneticVariation BEFREE All three papillary carcinomas accompanied by anaplastic carcinoma with a BRAF V600E mutation were also shown to have a BRAF V600E mutation. 17453004

2007
dbSNP: rs113488022
rs113488022
BRAF
0.060 GeneticVariation BEFREE The molecular genetic study of the BRAF gene showed the presence of a missense thymine to adenine transversion at nucleotide 1796, resulting in the V599E substitution, in 24 of 60 PTCs (40%), none of six follicular adenomas, and none of five follicular carcinomas or one anaplastic carcinoma. 15126572

2004
dbSNP: rs121913377
rs121913377
BRAF
0.060 GeneticVariation BEFREE The molecular genetic study of the BRAF gene showed the presence of a missense thymine to adenine transversion at nucleotide 1796, resulting in the V599E substitution, in 24 of 60 PTCs (40%), none of six follicular adenomas, and none of five follicular carcinomas or one anaplastic carcinoma. 15126572

2004
dbSNP: rs113488022
rs113488022
BRAF
0.060 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315

2003
dbSNP: rs121913377
rs121913377
BRAF
0.060 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315

2003
dbSNP: rs1057519736
rs1057519736
IDH2
0.020 GeneticVariation BEFREE Our study suggests that positive IDH2 11C8B1 immunohistochemistry in sinonasal carcinomas would be highly predictive of the presence of IDH2 R172S/T mutations and could serve as a reliable adjunct diagnostic marker of sinonasal undifferentiated carcinomas in >70% cases. 30206411

2019
dbSNP: rs1057519736
rs1057519736
IDH2
0.020 GeneticVariation BEFREE We identified IDH2 R172X mutations in 55% of sinonasal undifferentiated carcinomas including R172S, R172T, and R172M. 28084339

2017
dbSNP: rs1057519943
rs1057519943
POLE
0.010 GeneticVariation BEFREE Ten of the remaining 17 undifferentiated carcinomas showed the following alterations: 5 tumors (15%) showed loss of ARID1A only with intact ARID1B, BRG1, and INI1 expression, 4 tumors (12%) showed mutated patterns of p53 staining with intact SWI/SNF protein expression, and 1 tumor (3%) harbored a POLE exonuclease domain mutation (P286R). 28863077

2018
dbSNP: rs1310728559
rs1310728559
SMARCAL1
0.010 GeneticVariation BEFREE We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus. 23630135

2013
dbSNP: rs1042522
rs1042522
TP53
0.010 GeneticVariation BEFREE Recent studies have shown a significant correlation between the presence of p53 Arg72Pro polymorphism and several undifferentiated carcinomas. 12684657

2003
dbSNP: rs1131691014
rs1131691014
TP53
0.010 GeneticVariation BEFREE Recent studies have shown a significant correlation between the presence of p53 Arg72Pro polymorphism and several undifferentiated carcinomas. 12684657

2003
dbSNP: rs878854066
rs878854066
TP53
0.010 GeneticVariation BEFREE Recent studies have shown a significant correlation between the presence of p53 Arg72Pro polymorphism and several undifferentiated carcinomas. 12684657

2003