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: rs751047478
rs751047478
1.000 0.040 16 88721840 missense variant G/A snv 4.1E-05 1.4E-05
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019