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.
Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 1.000 2 2010 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 1.000 2 2010 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 0