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 0.080 14 65093782 stop gained G/A snv 0.700 1.000 4 2011 2017
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.925 0.080 14 65093782 stop gained G/A snv 0.700 1.000 3 2011 2017
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
9 0.925 0.080 14 65093782 stop gained G/A snv 0.700 0