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: rs1447313633
rs1447313633
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019