rs387906358, SDHD

N. diseases: 4
Source: CURATED ×
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
33 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
149 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
CUI: C3276074
Disease: PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
2 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 0