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: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2013 2013
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		0.010 1.000 1 2009 2009
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		0.010 1.000 1 2009 2009
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C1535510
Disease: ADENOMAS AND ADENOCARCINOMAS
ADENOMAS AND ADENOCARCINOMAS 		0.010 1.000 1 2013 2013
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		0.010 1.000 1 2009 2009
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.010 1.000 1 2010 2010
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 1.000 1 2007 2007
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.010 1.000 1 2015 2015
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0206696
Disease: Carcinoma, Signet Ring Cell
Carcinoma, Signet Ring Cell 		0.010 1.000 1 2016 2016
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.010 1.000 1 2007 2007
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2011 2011
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2017 2017