rs397516435, TP53

N. diseases: 6
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 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.700 1.000 9 1994 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.700 1.000 9 2001 2017
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2003 2003
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 1996 1996