Source: CLINVAR

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: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 10 2006 2013
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 10 2006 2013
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 10 2006 2013
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2006 2014
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 0
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		0.700 0
dbSNP: rs587782703
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 0