Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853148
rs137853148
PDGFRL
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121917732
rs121917732
MCC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121917731
rs121917731
MCC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121913364
rs121913364
BRAF
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913348
rs121913348
BRAF
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121913111
rs121913111
FGFR3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121434595
rs121434595
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28934576
rs28934576
TP53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.740 CausalMutation CLINVAR

dbSNP: rs1566734
rs1566734
PTPRJ
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 CausalMutation CLINVAR

dbSNP: rs62619935
rs62619935
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.710 CausalMutation CLINVAR

dbSNP: rs11540652
rs11540652
TP53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.710 CausalMutation CLINVAR

dbSNP: rs886040557
rs886040557
BRCA2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.700 GeneticVariation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003

2016
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876660765
rs876660765
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225311
rs863225311
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs80359596
rs80359596
BRCA2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs786201856
rs786201856
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs775104326
rs775104326
CTNNB1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs763151358
rs763151358
FANCE
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 GeneticVariation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003

2016
dbSNP: rs758175953
rs758175953
FLCN
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs63751194
rs63751194
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192

2008
dbSNP: rs63751194
rs63751194
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012
dbSNP: rs63751194
rs63751194
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535

2010