rs1306475361, SDHD

N. diseases: 4
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 AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 0