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: rs121912955
rs121912955
MMP2
0.925 0.200 16 55491830 missense variant G/A snv
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.010 1.000 1 2005 2005
dbSNP: rs1022088103
rs1022088103
MMP2
16 55485759 missense variant G/A snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2007 2007
dbSNP: rs1231584616
rs1231584616
MMP2
16 55485367 missense variant G/A snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2007 2007
dbSNP: rs11639960
rs11639960
MMP2
0.925 0.080 16 55499358 intron variant A/G snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 < 0.001 1 2008 2008
dbSNP: rs11639960
rs11639960
MMP2
0.925 0.080 16 55499358 intron variant A/G snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs1477017
rs1477017
MMP2
0.925 0.080 16 55483250 intron variant A/G snv 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2008 2008
dbSNP: rs1477017
rs1477017
MMP2
0.925 0.080 16 55483250 intron variant A/G snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs17301608
rs17301608
MMP2
0.925 0.080 16 55484698 intron variant C/A;G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 < 0.001 1 2008 2008
dbSNP: rs17301608
rs17301608
MMP2
0.925 0.080 16 55484698 intron variant C/A;G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs2287074
rs2287074
MMP2
0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2008 2008
dbSNP: rs17859821
rs17859821
MMP2
1.000 0.040 16 55478141 intron variant G/A;C snv 0.11
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 1.000 2 2009 2009
dbSNP: rs243864
rs243864
MMP2
0.925 0.080 16 55478410 intron variant T/G snv 0.19
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 0.500 2 2009 2009
dbSNP: rs11643630
rs11643630
MMP2
0.925 0.080 16 55476547 intron variant T/G snv 0.55
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs11643630
rs11643630
MMP2
0.925 0.080 16 55476547 intron variant T/G snv 0.55
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs11644561
rs11644561
MMP2
0.925 0.080 16 55475122 intron variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs11644561
rs11644561
MMP2
0.925 0.080 16 55475122 intron variant G/A snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs243866
rs243866
MMP2
0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2009 2009
dbSNP: rs763201736
rs763201736
MMP2
0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs763201736
rs763201736
MMP2
0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs763201736
rs763201736
MMP2
0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs243865
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.010 1.000 1 2010 2010
dbSNP: rs243866
rs243866
MMP2
0.827 0.120 16 55477625 intron variant G/A snv 0.19
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.010 1.000 1 2010 2010
dbSNP: rs753867656
rs753867656
MMP2
1.000 0.040 16 55488566 missense variant G/A snv 2.4E-05 4.2E-05
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2010 2010
dbSNP: rs781310717
rs781310717
MMP2
1.000 0.040 16 55479630 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2010 2010
dbSNP: rs243847
rs243847
MMP2
1.000 0.080 16 55490086 intron variant T/C snv 0.36
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.010 1.000 1 2011 2011