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: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 16 2003 2016
dbSNP: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 16 2003 2016
dbSNP: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 16 2003 2016
dbSNP: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2005 2017
dbSNP: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 0
dbSNP: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs587782604
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		0.700 0