rs104894304, 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
CUI: C0030421
Disease: Paraganglioma
36 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 13 2000 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 12 2001 2016
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 4 2001 2013