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: rs1396860069
rs1396860069
1.000 0.040 1 17027831 missense variant A/G snv 7.0E-06
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs786203251
rs786203251
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma
Neoplasms 0.010 1.000 1 2006 2006