Source: CURATED

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: rs772551056
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 11 2003 2016
dbSNP: rs121917755
rs121917755
SDHB
1.000 0.040 1 17028724 missense variant G/A;C snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 10 2001 2014
dbSNP: rs138996609
rs138996609
SDHB
0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 10 2003 2015
dbSNP: rs138996609
rs138996609
SDHB
0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 10 2003 2015
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: 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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 10 2006 2013
dbSNP: rs74315366
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 10 2001 2014
dbSNP: rs74315366
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 10 2001 2014
dbSNP: rs74315366
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 10 2001 2014
dbSNP: rs74315370
rs74315370
SDHB
0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 10 2003 2017
dbSNP: rs74315370
rs74315370
SDHB
0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 10 2003 2017
dbSNP: rs74315371
rs74315371
SDHB
1.000 0.040 1 17028721 missense variant C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 10 2001 2014
dbSNP: rs786202100
rs786202100
SDHB
0.925 0.080 1 17044791 frameshift variant GAGGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2004 2014
dbSNP: rs786203251
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 10 1992 2013
dbSNP: rs786203251
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 10 1992 2013
dbSNP: rs786203251
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 10 1992 2013
dbSNP: rs876659329
rs876659329
SDHB
1.000 0.040 1 17044767 missense variant A/G;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 10 2001 2014
dbSNP: rs1131691049
rs1131691049
SDHB
0.882 0.080 1 17054019 start lost T/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 9 2003 2013
dbSNP: rs1131691049
rs1131691049
SDHB
0.882 0.080 1 17054019 start lost T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.700 1.000 9 2003 2013
dbSNP: rs1131691049
rs1131691049
SDHB
0.882 0.080 1 17054019 start lost T/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 9 2003 2013
dbSNP: rs138996609
rs138996609
SDHB
0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2003 2012
dbSNP: rs74315366
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2001 2017
dbSNP: rs772551056
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 9 2002 2016
dbSNP: rs786203251
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2004 2015