rs80338842, TIMM8B;SDHD

N. diseases: 8
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.
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2015
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2012
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 5 2001 2012
Paraganglioma of head and neck
CUI: C1333944
Disease: Paraganglioma of head and neck
7 0.790 0.280 11 112086910 start lost G/A;C snv 0.020 1.000 2 2011 2015
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
12 0.790 0.280 11 112086910 start lost G/A;C snv 0.010 1.000 1 2012 2012
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.790 0.280 11 112086910 start lost G/A;C snv 0.010 1.000 1 2011 2011