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: C0221391
Disease: Melanosis coli
Melanosis coli
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
Amyotrophic Lateral Sclerosis, Sporadic
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: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.010 < 0.001 1 2007 2007
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.010 < 0.001 1 2007 2007
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: 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: 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: C0037284
Disease: Skin lesion
Skin lesion
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: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney
0.010 1.000 1 2008 2008
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma
0.010 1.000 1 2008 2008
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2008 2008
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: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx
0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.030 0.667 3 2010 2017
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: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
0.010 < 0.001 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Childhood Acute Lymphoblastic Leukemia
0.030 0.667 3 2011 2019