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 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2002 2016
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008