MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
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: rs2252070
rs2252070
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
Cardiovascular Diseases 0.020 1.000 2 2014 2019