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: rs1057519000
rs1057519000
1 1.000 0.040 X 48905400 frameshift variant CACTGCAGCC/- delins 0.700 0