rs397516835, SDHB

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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 6 1995 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 3 2002 2012
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 0
Glomus Tumor
CUI: C0017653
Disease: Glomus Tumor
5 0.925 0.080 1 17024040 missense variant C/G;T snv 0.010 1.000 1 2009 2009