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: rs12602273
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015
dbSNP: rs12602273
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs12602273
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs12602273
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		0.010 1.000 1 2013 2013
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		0.010 1.000 1 2007 2007
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2016 2016
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs12947788
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2011 2011