rs80338845, SDHD

N. diseases: 9
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.
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.800 1.000 6 2010 2015
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.730 1.000 15 2000 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 1.000 7 1998 2015
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 1.000 3 2010 2015
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 1.000 3 2010 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.010 1.000 1 2007 2007
Paraganglioma of head and neck
CUI: C1333944
Disease: Paraganglioma of head and neck
7 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.010 1.000 1 2015 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.010 1.000 1 2007 2007