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: rs1555955296
rs1555955296
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs587783405
rs587783405
9 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0