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: 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
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 < 0.001 1 2017 2017
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
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: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
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 < 0.001 1 2017 2017
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs8179090
rs8179090 		0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs8179096
rs8179096 		0.851 0.200 17 78925567 upstream gene variant G/A;C snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs8179096
rs8179096 		0.851 0.200 17 78925567 upstream gene variant G/A;C snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs8179096
rs8179096 		0.851 0.200 17 78925567 upstream gene variant G/A;C snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs8179096
rs8179096 		0.851 0.200 17 78925567 upstream gene variant G/A;C snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012