Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs772551056
rs772551056 		0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 24 2003 2017
dbSNP: rs138996609
rs138996609 		0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 19 2001 2015
dbSNP: rs74315368
rs74315368 		0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 19 2001 2017
dbSNP: rs74315370
rs74315370 		0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 17 2001 2017
dbSNP: rs74315368
rs74315368 		0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 15 2001 2015
dbSNP: rs74315367
rs74315367 		0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 13 2001 2017
dbSNP: rs74315372
rs74315372 		1.000 0.080 1 17028628 missense variant T/C;G snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 13 2001 2017
dbSNP: rs772551056
rs772551056 		0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 11 2003 2016
dbSNP: rs121917755
rs121917755 		1.000 0.040 1 17028724 missense variant G/A;C snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 10 2001 2014
dbSNP: rs74315371
rs74315371 		1.000 0.040 1 17028721 missense variant C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 10 2001 2014
dbSNP: rs786202732
rs786202732 		0.882 0.080 1 17024041 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 7 2001 2007
dbSNP: rs786201095
rs786201095 		0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 18 2005 2018
dbSNP: rs786201095
rs786201095 		0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 17 2005 2018
dbSNP: rs587782604
rs587782604 		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 		Digestive System Diseases; Neoplasms 0.700 1.000 16 2003 2016
dbSNP: rs587782604
rs587782604 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 16 2003 2016
dbSNP: rs587782604
rs587782604 		0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 16 2003 2016
dbSNP: rs74315368
rs74315368 		0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 16 2004 2015
dbSNP: rs74315370
rs74315370 		0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 16 2002 2015
dbSNP: rs74315366
rs74315366 		0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 2001 2017
dbSNP: rs772551056
rs772551056 		0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 2002 2018
dbSNP: rs397516836
rs397516836 		0.882 0.080 1 17024015 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 2006 2018
dbSNP: rs587782604
rs587782604 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 2005 2017
dbSNP: rs876658367
rs876658367 		0.882 0.080 1 17024028 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 2002 2014
dbSNP: rs267607032
rs267607032 		0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2008 2018
dbSNP: rs786201095
rs786201095 		0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 12 2005 2015