Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555744039
rs1555744039
ASXL3
1 1.000 18 33743920 frameshift variant GTCTTGATTCCCCC/- del 0.700 0