rs28934578, TP53

N. diseases: 16
Source: CLINVAR ×
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
157 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.820 1.000 18 1990 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.780 0.909 3 2000 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.750 1.000 0 2011 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 0 2017 2017
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
20 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 1.000 0 2005 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 1.000 16 1994 2016
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 1.000 14 1997 2014
ADRENOCORTICAL CARCINOMA, HEREDITARY
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
6 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
7 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Choroid Plexus Papilloma
CUI: C0205770
Disease: Choroid Plexus Papilloma
7 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
7 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
3 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
6 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
22 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0