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: rs9619311
rs9619311 		0.851 0.160 22 32800707 intron variant T/C snv 0.40
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9619311
rs9619311 		0.851 0.160 22 32800707 intron variant T/C snv 0.40
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9619311
rs9619311 		0.851 0.160 22 32800707 intron variant T/C snv 0.40
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9619311
rs9619311 		0.851 0.160 22 32800707 intron variant T/C snv 0.40
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
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: rs9862
rs9862 		1.000 0.080 22 32857293 missense variant T/A;C snv 4.0E-06; 0.55
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9862
rs9862 		1.000 0.080 22 32857293 missense variant T/A;C snv 4.0E-06; 0.55
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9862
rs9862 		1.000 0.080 22 32857293 missense variant T/A;C snv 4.0E-06; 0.55
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
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