TIMP3, TIMP metallopeptidase inhibitor 3, 7078

N. diseases: 325; 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: rs715572
rs715572 		0.925 0.040 22 32838944 intron variant G/A snv 0.18
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.020 1.000 2 2015 2017
dbSNP: rs1270675463
rs1270675463 		1.000 0.040 22 32802114 missense variant C/G snv 7.0E-06
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		Eye Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1065314
rs1065314 		22 32862301 3 prime UTR variant T/C snv 0.29
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11547635
rs11547635 		1.000 0.040 22 32857305 synonymous variant C/A;T snv 0.11
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs135029
rs135029 		0.925 0.080 22 32844303 intron variant A/G snv 0.69
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs135029
rs135029 		0.925 0.080 22 32844303 intron variant A/G snv 0.69
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5754312
rs5754312 		22 32848434 intron variant A/T snv 0.52
CUI: C0037011
Disease: Shoulder Pain
Shoulder Pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs715572
rs715572 		0.925 0.040 22 32838944 intron variant G/A snv 0.18
CUI: C0037011
Disease: Shoulder Pain
Shoulder Pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs715572
rs715572 		0.925 0.040 22 32838944 intron variant G/A snv 0.18
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019