Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912953
rs121912953
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393

2006
dbSNP: rs121912953
rs121912953
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365

2005
dbSNP: rs121912953
rs121912953
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697

2001
dbSNP: rs121912953
rs121912953
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121912955
rs121912955
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393

2006
dbSNP: rs121912955
rs121912955
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365

2005
dbSNP: rs121912955
rs121912955
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697

2001
dbSNP: rs121912955
rs121912955
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		A 0.800 CausalMutation CLINVAR

dbSNP: rs243865
rs243865
MMP2
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.720 GeneticVariation BEFREE In this case-control study, MMP2 promoter 1306 (rs243865) and -735 (rs2285053) genotypes and their interaction with consumption of areca, cigarettes, and alcohol in determining oral cancer risk were investigated among 788 patients with oral cancer and 956 gender-matched healthy controls. 30504396

2018
dbSNP: rs243865
rs243865
MMP2
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.720 GeneticVariation BEFREE Our data indicated genotypes and alleles in specific SNPs rs9849237, rs243865 and rs10090787 with increased/decreased risk to oral cancer. 28595731

2017
dbSNP: rs243865
rs243865
MMP2
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		T 0.720 GeneticVariation CLINVAR

dbSNP: rs142319636
rs142319636
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.710 GeneticVariation GWASCAT We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)]. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.710 GeneticVariation BEFREE We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)]. 27207650

2016
dbSNP: rs121912954
rs121912954
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142319636
rs142319636
MMP2
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs142319636
rs142319636
MMP2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650

2016
dbSNP: rs1567378779
rs1567378779
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs243865
rs243865
MMP2
CUI: C0149744
Disease: Oral lesion
Oral lesion 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs759302357
rs759302357
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT