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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.030 0.333 3 2003 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.030 0.667 3 2001 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.030 0.667 3 2001 2019
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: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.030 0.667 3 2001 2019
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
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
0.020 1.000 2 2017 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4048328
Disease: cervical cancer
cervical cancer
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
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.020 1.000 2 2011 2011
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: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 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: 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
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 1.000 2 2012 2016
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.020 1.000 2 2012 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 0.500 2 2007 2017
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
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
Stage IIB 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
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: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
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: 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
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: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
0.020 1.000 2 2011 2011
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0085437
Disease: Meningitis, Bacterial
Meningitis, Bacterial
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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.020 1.000 2 2011 2015