Disease: PARAGANGLIOMAS 4 ×
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: rs74315366
rs74315366 		0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2001 2014
dbSNP: rs74315370
rs74315370 		0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2003 2017
dbSNP: rs397516836
rs397516836 		0.882 0.080 1 17024015 stop gained C/A;T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2006 2012
dbSNP: rs751000085
rs751000085 		0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2006 2017
dbSNP: rs876658461
rs876658461 		0.827 0.200 1 17023975 stop gained G/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2007 2009
dbSNP: rs878854575
rs878854575 		0.882 0.080 1 17033075 stop gained T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs1060503753
rs1060503753 		0.925 0.080 1 17027790 stop gained T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503759
rs1060503759 		0.925 0.080 1 17024013 stop gained C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503762
rs1060503762 		0.925 0.080 1 17044820 stop gained C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503763
rs1060503763 		0.925 0.080 1 17027848 stop gained A/C snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177285
rs1553177285 		1.000 0.080 1 17022676 stop gained T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177676
rs1553177676 		0.925 0.080 1 17027784 stop gained G/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177677
rs1553177677 		1.000 0.080 1 17027787 stop gained G/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs74315369
rs74315369 		0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786203506
rs786203506 		0.925 0.080 1 17028649 stop gained G/A;C;T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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: 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: 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: 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: rs786201095
rs786201095 		0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2005 2015
dbSNP: rs267607032
rs267607032 		0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 2006 2015
dbSNP: rs138996609
rs138996609 		0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2003 2015
dbSNP: rs786203251
rs786203251 		0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1992 2013
dbSNP: rs202101384
rs202101384 		0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2012 2017