Source: BEFREE

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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.020 0.500 2 2011 2012
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: C1282365
Disease: Mixed type cataract
Mixed type cataract
0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 < 0.001 1 2012 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Xeroderma Pigmentosum, Complementation Group D
0.050 1.000 5 2006 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.040 0.500 4 2003 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Squamous cell carcinoma of esophagus
0.020 1.000 2 2001 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 1.000 2 2010 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
0.010 < 0.001 1 2013 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 < 0.001 1 2013 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 0.857 7 2007 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Malignant neoplasm of urinary bladder
0.070 0.857 7 2007 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.070 0.857 7 2007 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Diabetes Mellitus, Non-Insulin-Dependent
0.050 1.000 5 2009 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
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: 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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
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: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
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: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
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
Malignant neoplasm of colon and/or rectum
0.100 0.538 13 2005 2015