Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.020 1.000 2 2014 2019
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		0.010 1.000 1 2012 2012
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		0.010 1.000 1 2016 2016
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0011334
Disease: Dental caries
Dental caries 		0.010 1.000 1 2012 2012
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.010 1.000 1 2019 2019
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		0.010 1.000 1 2016 2016
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2016 2016