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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.040 2 96265379 start lost C/A;T snv 0.700 1.000 1 2010 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.925 0.040 2 96265379 start lost C/A;T snv 0.700 0
Paraganglioma of head and neck
CUI: C1333944
Disease: Paraganglioma of head and neck
7 0.925 0.040 2 96265379 start lost C/A;T snv 0.010 1.000 1 2015 2015