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: rs2376999
rs2376999 		17 78894782 intron variant A/G snv 0.28
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4789937
rs4789937 		17 78898598 non coding transcript exon variant A/G snv 0.97
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.700 1.000 1 2010 2010
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: 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: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
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: rs9905388
rs9905388 		17 78906167 intron variant T/C snv 0.42
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
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: 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: 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: 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
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: 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: rs1973232
rs1973232 		17 78860884 intron variant G/A;C snv
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3744790
rs3744790 		1.000 0.120 17 78897053 intron variant C/T snv 0.14
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 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: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014
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: 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: 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: 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