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: rs113560320
rs113560320
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
PARAGANGLIOMAS 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 8 2010 2017