Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
APC
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.710 GeneticVariation CLINVAR

dbSNP: rs34612342
rs34612342
MUTYH
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		C 0.710 CausalMutation CLINVAR

dbSNP: rs1021631442
rs1021631442
MSH6 ; FBXO11
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549

2012
dbSNP: rs1114167435
rs1114167435
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		T 0.700 CausalMutation CLINVAR

dbSNP: rs137854575
rs137854575
APC
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs138213197
rs138213197
HOXB13
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1434898623
rs1434898623
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553368590
rs1553368590
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553413710
rs1553413710
MSH6 ; FBXO11
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		T 0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
dbSNP: rs1553651073
rs1553651073
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554298756
rs1554298756
PMS2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267608058
rs267608058
MSH6 ; FBXO11
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		AC 0.700 CausalMutation CLINVAR

dbSNP: rs387906234
rs387906234
APC
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs431825362
rs431825362
BRCA2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587778134
rs587778134
BRIP1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		CAA 0.700 CausalMutation CLINVAR

dbSNP: rs587779018
rs587779018
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs587779021
rs587779021
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587779157
rs587779157
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587780226
rs587780226
BRIP1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587782705
rs587782705
TP53
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs63750206
rs63750206
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR