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: rs80358193
rs80358193
0.882 0.080 1 231374041 missense variant G/C snv
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2008 2008