rs397516833, SDHB

N. diseases: 5
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 7 2004 2015
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
67 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 7 2007 2016
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 2 2007 2008