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.
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 1 2002 2002