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: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 25 1990 2017
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2011
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 6 1997 2011
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 1.000 4 2008 2019
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2005 2011
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2005 2011
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2016 2016
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2009 2009
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2007 2007
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 1.000 1 2008 2008
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0268074
Disease: Indian childhood cirrhosis
Indian childhood cirrhosis 		0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		0.010 1.000 1 2019 2019
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2016 2016
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.010 1.000 1 2018 2018
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2002 2002
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C2721734
Disease: Methylenetetrahydrofolate reductase polymorphism
Methylenetetrahydrofolate reductase polymorphism 		0.010 1.000 1 2008 2008
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019