rs587782705, TP53

N. diseases: 8
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 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.800 1.000 34 1990 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 1.000 6 1994 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019