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: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1294950721
rs1294950721
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 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