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: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.020 1.000 2 2009 2020
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2005 2007
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2010 2012
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 1.000 2 2009 2020
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 < 0.001 1 2005 2005
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
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
MMP9 ; SLC12A5-AS1
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
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2008 2008
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2008 2008
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
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: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2009 2009
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
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
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2010 2010
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2010 2010
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
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