Source: CURATED ×
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
33 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
149 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0