rs80338844, SDHD

N. diseases: 10
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 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 13 2000 2015
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.720 1.000 15 2000 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 18 2000 2015
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 10 2000 2015
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 10 2000 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 8 2000 2015
Mitochondrial Complex II Deficiency
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
45 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
CUI: C3276074
Disease: PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
2 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2018 2018
Paraganglioma of head and neck
CUI: C1333944
Disease: Paraganglioma of head and neck
7 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2003 2003