rs80338843, TIMM8B;SDHD

N. diseases: 6
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 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2000 2015
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2000 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2000 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 7 2000 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 7 2000 2010
Pheochromocytoma, Extra-Adrenal
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
5 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2000 2000