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: rs1057518083
rs1057518083
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs1555420508
rs1555420508
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs543860009
rs543860009
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs80338800
rs80338800
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs878854378
rs878854378
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0