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: rs137853298
rs137853298 		0.925 0.080 22 32859351 missense variant A/T snv
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		Eye Diseases 0.840 1.000 8 1994 2003
dbSNP: rs137853300
rs137853300 		1.000 0.040 22 32859277 missense variant C/G snv
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		Eye Diseases 0.810 1.000 6 1994 2010
dbSNP: rs137853299
rs137853299 		1.000 0.040 22 32859313 missense variant A/G snv
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		Eye Diseases 0.810 1.000 5 1994 1997
dbSNP: rs137853301
rs137853301 		1.000 0.040 22 32859306 missense variant G/T snv
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		Eye Diseases 0.810 1.000 5 1994 1997
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: rs12165603
rs12165603 		22 32854769 intron variant G/A snv 3.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12165603
rs12165603 		22 32854769 intron variant G/A snv 3.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16991252
rs16991252 		22 32817937 intron variant C/A;T snv 2.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16991252
rs16991252 		22 32817937 intron variant C/A;T snv 2.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs137853302
rs137853302 		1.000 0.040 22 32859225 stop gained G/T snv
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		Eye Diseases 0.700 0
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: 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: 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: rs130269
rs130269 		1.000 0.040 22 32805668 intron variant C/T snv 0.15
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs130293
rs130293 		1.000 0.040 22 32825953 intron variant G/A snv 0.92
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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: rs137853298
rs137853298 		0.925 0.080 22 32859351 missense variant A/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1998 1998
dbSNP: rs137853298
rs137853298 		0.925 0.080 22 32859351 missense variant A/T snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs137853300
rs137853300 		1.000 0.040 22 32859277 missense variant C/G snv
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2010 2010
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
dbSNP: rs8136803
rs8136803 		0.925 0.080 22 32841125 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs8136803
rs8136803 		0.925 0.080 22 32841125 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009