TIMP2, TIMP metallopeptidase inhibitor 2, 7077

N. diseases: 404; N. variants: 20
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: rs11658743
rs11658743 		1.000 0.040 17 78877679 intron variant T/C snv 0.17
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
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: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0752156
Disease: Dural Arteriovenous Fistula
Dural Arteriovenous Fistula 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698 		0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs2277700
rs2277700 		1.000 0.040 17 78870629 intron variant C/A;G;T snv
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2377005
rs2377005 		1.000 0.040 17 78874211 intron variant A/G snv 0.93
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs4789934
rs4789934 		1.000 0.040 17 78915454 intron variant G/A;T snv
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4789936
rs4789936 		0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs540397728
rs540397728 		1.000 0.040 17 78871011 splice region variant A/G snv 1.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs578083142
rs578083142 		1.000 0.040 17 78855681 missense variant T/C;G snv 4.0E-06; 7.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs7342880
rs7342880 		1.000 0.040 17 78878430 intron variant A/C;G;T snv
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs775066324
rs775066324 		0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs8176329
rs8176329 		17 78856015 3 prime UTR variant G/A snv 0.71
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017