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: rs1057518764
rs1057518764
6 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1555617226
rs1555617226
4 0.851 0.160 17 49993440 missense variant C/A snv 0.700 0
dbSNP: rs387906406
rs387906406
2 0.925 0.160 17 49991819 frameshift variant AG/- delins 0.700 0