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: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.020 1.000 2 2011 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0021364
Disease: Male infertility
Male infertility
0.020 1.000 2 2013 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 1.000 2 2012 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 1.000 2 2011 2017
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Stage III Gallbladder Cancer AJCC v8
0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.020 1.000 2 2005 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Stage IIA Gallbladder Cancer AJCC v8
0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix
0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
0.010 < 0.001 1 2006 2006
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Malignant neoplasm of gastrointestinal tract
0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.010 1.000 1 2014 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4553752
Disease: Stage IV Prostate Cancer AJCC v8
Stage IV Prostate Cancer AJCC v8
0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0022593
Disease: Keratosis
Keratosis
0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.010 1.000 1 2015 2015