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: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.010 1.000 1 1999 1999
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0033999
Disease: Pterygium
Pterygium
0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye
0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea
0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.010 1.000 1 2005 2005
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 < 0.001 1 2005 2005
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0080233
Disease: Tooth Loss
Tooth Loss
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: 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
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
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: 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: 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: 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: 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
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: 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
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: 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: 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
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
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
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV 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: 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: 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
Stage IIB Gallbladder Cancer AJCC v8
0.020 1.000 2 2007 2009