Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397516833
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2004 2015
dbSNP: rs397516833
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 7 2007 2016
dbSNP: rs397516833
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 6 2007 2016
dbSNP: rs397516833
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 6 2007 2016
dbSNP: rs397516833
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 2 2007 2008