TIMP4, TIMP metallopeptidase inhibitor 4, 7079

N. diseases: 108; N. variants: 1
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: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
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: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs3755724
rs3755724
0.790 0.360 3 12159406 intron variant C/T snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2013 2013