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: rs80338842
rs80338842
0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
Neoplasms 0.020 1.000 2 2011 2015
dbSNP: rs80338844
rs80338844
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs80338845
rs80338845
0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
Neoplasms 0.010 1.000 1 2015 2015