Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs8179090
rs8179090
TIMP2
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
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 1.000 1 2018 2018
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		0.010 < 0.001 1 2019 2019
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 < 0.001 1 2012 2012
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 1.000 1 2019 2019
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2018 2018
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 < 0.001 1 2017 2017
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2016 2016
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 1.000 1 2019 2019
dbSNP: rs8179090
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 < 0.001 1 2017 2017
dbSNP: rs8179090
rs8179090
TIMP2
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 		0.010 < 0.001 1 2017 2017