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: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs543860009
rs543860009
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs878854378
rs878854378
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0