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: rs142135772
rs142135772
1.000 0.080 11 112088975 missense variant A/C;G snv 1.1E-04
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2004 2004