rs121912654, TP53

N. diseases: 21
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.
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.720 1.000 2 2011 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.700 1.000 13 1998 2011
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2008 2008
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2008 2008
melanoma
CUI: C0025202
Disease: melanoma
515 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
51 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2017 2017
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2018 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2020 2020
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2016 2016
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2007 2007
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2010 2010
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2010 2010
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2010 2010
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2020 2020
Peripheral T-Cell Lymphoma
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
10 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2007 2007
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2020 2020
Sporadic Breast Carcinoma
CUI: C1336076
Disease: Sporadic Breast Carcinoma
46 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2004 2004