Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
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: rs63751108
rs63751108
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs63749959
rs63749959
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs587783057
rs587783057
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs587783057
rs587783057
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs587783057
rs587783057
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215

2009
dbSNP: rs587783057
rs587783057
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs587783057
rs587783057
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. 19245865

2009
dbSNP: rs587783057
rs587783057
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2005
dbSNP: rs587781628
rs587781628
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.700 CausalMutation CLINVAR The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. 15635083

2005