Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79658334
rs79658334
RET
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121913240
rs121913240
KRAS
A 0.710 GeneticVariation CLINVAR

dbSNP: rs1555166368
rs1555166368
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1799939
rs1799939
RET
0.070 GeneticVariation BEFREE (3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree. 27798940

2017
dbSNP: rs1800863
rs1800863
RET
0.010 GeneticVariation BEFREE (3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree. 27798940

2017
dbSNP: rs2075912
rs2075912
RET
0.010 GeneticVariation BEFREE (3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree. 27798940

2017
dbSNP: rs2565200
rs2565200
RET
0.010 GeneticVariation BEFREE (3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree. 27798940

2017
dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04). 23780998

2013
dbSNP: rs781609053
rs781609053
EGFR
0.010 GeneticVariation BEFREE MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04). 23780998

2013
dbSNP: rs377767429
rs377767429
RET
0.720 GeneticVariation BEFREE MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. 28323957

2017
dbSNP: rs121913306
rs121913306
RET
0.020 GeneticVariation BEFREE MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. 28323957

2017
dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. 28323957

2017
dbSNP: rs377767397
rs377767397
RET
0.020 GeneticVariation BEFREE Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. 12734540

2003
dbSNP: rs377767398
rs377767398
RET
0.020 GeneticVariation BEFREE Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. 12734540

2003
dbSNP: rs377767391
rs377767391
RET
0.010 GeneticVariation BEFREE Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. 12734540

2003
dbSNP: rs75234356
rs75234356
RET
0.760 GeneticVariation BEFREE S891A mutation caused medullary thyroid cancer (MTC) in 69.4%, pheochromocytoma in 2.8%, and parathyroid hyperplasia in 8.3% of the 36 patients of this case series and in 63.5, 4.1, and 4.1%, respectively, for the entire groups of 74 patients. 20554711

2010
dbSNP: rs76262710
rs76262710
RET
0.730 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
dbSNP: rs79781594
rs79781594
RET
0.730 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
dbSNP: rs75996173
rs75996173
RET
0.770 GeneticVariation BEFREE A 6 base pair (bp) deletion causing the loss of a cysteine residue at codon 634 and a mutation causing substitution from cysteine to tyrosine at codon 634 were detected in 2 sporadic MTCs as somatic events. 8556059

1995
dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation. 23341727

2013
dbSNP: rs377767429
rs377767429
RET
0.720 GeneticVariation BEFREE A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation. 21186952

2011
dbSNP: rs121913306
rs121913306
RET
0.020 GeneticVariation BEFREE A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation. 21186952

2011
dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation. 21186952

2011
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE A heterozygous TGC to CGC mutation of codon 634 (cysteine to arginine) was found in the PHAEO and medullary thyroid cancer from the MEN 2A patient. 7889627

1995
dbSNP: rs34682185
rs34682185
RET
0.010 GeneticVariation BEFREE A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization. 20039896

2010