MMP12, matrix metallopeptidase 12, 4321

N. diseases: 216; N. variants: 12
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: rs2276109
rs2276109
0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs652438
rs652438
0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
Respiratory Tract Diseases 0.010 < 0.001 1 2010 2010