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: 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: 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: 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: 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: rs587782703
rs587782703
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2006 2013
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: 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: rs1131691049
rs1131691049
0.882 0.080 1 17054019 start lost T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 2003 2013
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: rs397516833
rs397516833
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2007 2016
dbSNP: rs398122805
rs398122805
0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2006 2014
dbSNP: rs786202100
rs786202100
0.925 0.080 1 17044791 frameshift variant GAGGT/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2004 2014
dbSNP: rs1060503757
rs1060503757
0.882 0.080 1 17024024 frameshift variant G/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2005 2013
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: rs786201063
rs786201063
0.882 0.080 1 17033059 splice donor variant C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2006 2016
dbSNP: rs786201161
rs786201161
0.882 0.080 1 17024076 splice acceptor variant T/C snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2007 2014
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
dbSNP: rs587781270
rs587781270
0.882 0.080 1 17033058 splice donor variant A/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2006 2012
dbSNP: rs587782243
rs587782243
0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1990 2013
dbSNP: rs762812025
rs762812025
0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2004 2014