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 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 5 2007 2015
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 0