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: rs587782604
rs587782604
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.700 0
dbSNP: rs587782703
rs587782703
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.700 0
dbSNP: rs772551056
rs772551056
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs876658461
rs876658461
0.827 0.200 1 17023975 stop gained G/A snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2009 2009