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: rs1559598775
rs1559598775
3 0.882 0.200 2 178592056 stop gained 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: rs587782986
rs587782986
1 1.000 0.040 2 178580401 frameshift variant TGTT/- delins 4.0E-06 0.700 0
dbSNP: rs869025544
rs869025544
1 1.000 0.040 2 178594134 stop gained C/T snv 0.700 0
dbSNP: rs878854378
rs878854378
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs766041336
rs766041336
1 1.000 0.040 2 178770441 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017