MMP9, matrix metallopeptidase 9, 4318

N. diseases: 1337; N. variants: 31
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: rs1459997671
rs1459997671 		0.882 0.120 20 46010963 synonymous variant C/T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 < 0.001 1 2018 2018
dbSNP: rs17576
rs17576 		0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs17577
rs17577 		0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2236416
rs2236416 		1.000 0.120 20 46011936 intron variant A/G snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889 		0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs2274755
rs2274755 		0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2274755
rs2274755 		0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2014 2014
dbSNP: rs3918241
rs3918241 		0.925 0.080 20 46007096 upstream gene variant T/A snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0264765
Disease: Rheumatic disease of mitral valve
Rheumatic disease of mitral valve 		0.010 1.000 1 2017 2017
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 < 0.001 1 2017 2017
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2020 2020
dbSNP: rs3918242
rs3918242 		0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3918252
rs3918252 		20 46010492 missense variant C/G snv 3.6E-05 2.4E-04
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2015 2015