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.
Mitochondrial Complex II Deficiency
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
45 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.700 1.000 4 2000 2016
PARAGANGLIOMAS 5
CUI: C3279992
Disease: PARAGANGLIOMAS 5
39 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.700 1.000 4 2000 2016
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2015 2015
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019