Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR

dbSNP: rs587778134
rs587778134
BRIP1
CAA 0.700 CausalMutation CLINVAR

dbSNP: rs587779018
rs587779018
MLH1
CT 0.700 CausalMutation CLINVAR

dbSNP: rs587779021
rs587779021
MLH1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587779157
rs587779157
MSH2
G 0.700 CausalMutation CLINVAR

dbSNP: rs587780226
rs587780226
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587782705
rs587782705
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs63750206
rs63750206
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs63750547
rs63750547
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs63750691
rs63750691
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
TTCAAAAGGGACATAGAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63751207
rs63751207
MSH2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs864622607
rs864622607
MSH6 ; FBXO11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312768
rs869312768
MSH2
CTT 0.700 CausalMutation CLINVAR

dbSNP: rs869312770
rs869312770
MSH6 ; FBXO11
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312775
rs869312775
PTEN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312781
rs869312781
SMAD4
G 0.700 CausalMutation CLINVAR

dbSNP: rs869312783
rs869312783
BMPR1A
ATTAG 0.700 CausalMutation CLINVAR

dbSNP: rs989026404
rs989026404
MAP2K3
0.700 GeneticVariation UNIPROT

dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer. 9407954

1997
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer. 9407954

1997
dbSNP: rs1364898025
rs1364898025
ATM
0.010 GeneticVariation BEFREE Four distinct sequence alterations were identified: (a) in one gastric and one esophageal tumor, an A to C transversion occurred at nucleotide 5795 (CAC-->CCC), leading to a His-->Pro substitution at codon 179; (b) a second esophageal tumor had a C to T transition at nucleotide 8291 (ACC-->ATC), leading to a Thr-->Ile substitution at codon 277 of IGFBP-3; (c) one alteration comprised a G to C transversion in exon 1 at nucleotide 2132 (GGG-->GCG), leading to a Gly-->Ala substitution at codon 32 in two gastric cancers, seven esophageal cancers, and nine colon cancers; and (d) a C to G transversion located 17 nucleotides from the 3' splice site in intron 1 was observed in three colon cancers and four esophageal cancers. 9809981

1998
dbSNP: rs145188037
rs145188037
IGFBP3
0.010 GeneticVariation BEFREE Four distinct sequence alterations were identified: (a) in one gastric and one esophageal tumor, an A to C transversion occurred at nucleotide 5795 (CAC-->CCC), leading to a His-->Pro substitution at codon 179; (b) a second esophageal tumor had a C to T transition at nucleotide 8291 (ACC-->ATC), leading to a Thr-->Ile substitution at codon 277 of IGFBP-3; (c) one alteration comprised a G to C transversion in exon 1 at nucleotide 2132 (GGG-->GCG), leading to a Gly-->Ala substitution at codon 32 in two gastric cancers, seven esophageal cancers, and nine colon cancers; and (d) a C to G transversion located 17 nucleotides from the 3' splice site in intron 1 was observed in three colon cancers and four esophageal cancers. 9809981

1998
dbSNP: rs2854746
rs2854746
IGFBP3
0.010 GeneticVariation BEFREE Four distinct sequence alterations were identified: (a) in one gastric and one esophageal tumor, an A to C transversion occurred at nucleotide 5795 (CAC-->CCC), leading to a His-->Pro substitution at codon 179; (b) a second esophageal tumor had a C to T transition at nucleotide 8291 (ACC-->ATC), leading to a Thr-->Ile substitution at codon 277 of IGFBP-3; (c) one alteration comprised a G to C transversion in exon 1 at nucleotide 2132 (GGG-->GCG), leading to a Gly-->Ala substitution at codon 32 in two gastric cancers, seven esophageal cancers, and nine colon cancers; and (d) a C to G transversion located 17 nucleotides from the 3' splice site in intron 1 was observed in three colon cancers and four esophageal cancers. 9809981

1998