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: rs1569167515
rs1569167515
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0