rs879253942, TP53

N. diseases: 28
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.677 0.400 17 7673826 missense variant A/G snv 0.800 1.000 25 1990 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.677 0.400 17 7673826 missense variant A/G snv 0.700 1.000 7 1996 2011
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.677 0.400 17 7673826 missense variant A/G snv 0.700 1.000 6 1997 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.677 0.400 17 7673826 missense variant A/G snv 0.040 1.000 4 2008 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.677 0.400 17 7673826 missense variant A/G snv 0.030 1.000 3 2005 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.677 0.400 17 7673826 missense variant A/G snv 0.020 1.000 2 2005 2011
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
Cervical Intraepithelial Neoplasia
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
29 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2017 2017
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2005 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2002 2002
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2019 2019
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2007 2007
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2007 2007
Fast acetylator due to N-acetyltransferase enzyme variant
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
9 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2016 2016
Indian childhood cirrhosis
CUI: C0268074
Disease: Indian childhood cirrhosis
6 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
Infiltrating Cervical Carcinoma
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
13 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
Intrahepatic Cholangiocarcinoma
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
19 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2016 2016
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2007 2007
Methylenetetrahydrofolate reductase polymorphism
CUI: C2721734
Disease: Methylenetetrahydrofolate reductase polymorphism
7 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2008 2008
precancerous lesions
CUI: C0940937
Disease: precancerous lesions
19 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2019 2019
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
68 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2009 2009
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
34 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2008 2008