ADAM12, ADAM metallopeptidase domain 12, 8038

N. diseases: 107; N. variants: 19
Disease: Osteoarthritis, Knee ×
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: rs3740199
rs3740199 		0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.050 0.600 5 2012 2017
dbSNP: rs1044122
rs1044122 		0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.030 0.667 3 2014 2017
dbSNP: rs1871054
rs1871054 		0.925 0.040 10 126093840 intron variant C/A;T snv
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.020 0.500 2 2017 2017
dbSNP: rs1278279
rs1278279 		0.925 0.040 10 126064909 missense variant G/A;C snv 0.27
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017