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: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010