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: rs771063992
rs771063992
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
Hemic and Lymphatic Diseases 0.700 0