MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
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: rs1799750
rs1799750
0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
Musculoskeletal Diseases 0.020 0.500 2 2018 2019
dbSNP: rs513964
rs513964
1.000 0.040 11 102795478 missense variant T/C snv 1.9E-04 7.7E-04
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
Musculoskeletal Diseases 0.010 1.000 1 2015 2015