MMP14, matrix metallopeptidase 14, 4323

N. diseases: 340; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777039
rs587777039 		1.000 0.200 14 22836867 missense variant C/G snv
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1004030
rs1004030 		1.000 0.080 14 22836440 upstream gene variant T/C snv 0.39
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1042704
rs1042704 		1.000 0.120 14 22843385 missense variant G/A;C snv 0.16
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17880989
rs17880989 		14 22844424 missense variant G/A snv 1.6E-02 1.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17880989
rs17880989 		14 22844424 missense variant G/A snv 1.6E-02 1.5E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17884841
rs17884841 		14 22843265 missense variant A/G snv 1.9E-03 7.2E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17884841
rs17884841 		14 22843265 missense variant A/G snv 1.9E-03 7.2E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17884841
rs17884841 		14 22843265 missense variant A/G snv 1.9E-03 7.2E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2236302
rs2236302 		1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2236307
rs2236307 		14 22843714 synonymous variant T/A;C;G snv 0.22 0.24
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012