Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.800 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		C 0.780 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs28934576
rs28934576
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.780 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28934578
rs28934578
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.780 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28934578
rs28934578
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.780 GeneticVariation CLINVAR p53 regulates glucose metabolism through an IKK-NF-kappaB pathway and inhibits cell transformation. 18391940

2008
dbSNP: rs28934578
rs28934578
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.780 GeneticVariation CLINVAR Role of the p53-homologue p73 in E2F1-induced apoptosis. 11101847

2000
dbSNP: rs11540652
rs11540652
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.770 GeneticVariation CLINVAR Mutant p53 in cancer: new functions and therapeutic opportunities. 24651012

2014
dbSNP: rs11540652
rs11540652
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.770 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121912651
rs121912651
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.760 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121434596
rs121434596
NRAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28934575
rs28934575
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28934575
rs28934575
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.740 GeneticVariation CLINVAR Structural basis for understanding oncogenic p53 mutations and designing rescue drugs. 17015838

2006
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
CUI: C0027651
Disease: Neoplasms
Neoplasms 		C 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.730 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs121913495
rs121913495
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913495
rs121913495
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.730 GeneticVariation CLINVAR GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. 21835143

2012
dbSNP: rs121913495
rs121913495
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.730 GeneticVariation CLINVAR GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. 21835143

2012
dbSNP: rs34589476
rs34589476
MET
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.730 GeneticVariation CLINVAR An orally available small-molecule inhibitor of c-Met, PF-2341066, exhibits cytoreductive antitumor efficacy through antiproliferative and antiangiogenic mechanisms. 17483355

2007
dbSNP: rs104893829
rs104893829
VHL
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913348
rs121913348
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.720 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs121913348
rs121913348
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.720 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs56391007
rs56391007
MET
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.720 GeneticVariation CLINVAR An orally available small-molecule inhibitor of c-Met, PF-2341066, exhibits cytoreductive antitumor efficacy through antiproliferative and antiangiogenic mechanisms. 17483355

2007