Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63749843 0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs267608058 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 6
rs63749999 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6
rs63751017 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 6
rs786201042 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 6
rs267608078 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 5
rs63750617 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 5
rs876660943 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 5
rs63749873 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 5
rs193922343 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 4
rs267608064 0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins 4
rs267608092 0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins 4
rs267608120 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 4
rs267608122 0.925 0.160 2 47806651 missense variant G/A;C snv 4
rs63750119 0.925 0.160 2 47806282 missense variant G/A;T snv 4.0E-06 4
rs63750741 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 4
rs63750955 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 4
rs63751327 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 4
rs730881816 0.925 0.160 2 47799788 stop gained C/A;G snv 4
rs876661222 0.925 0.160 2 47806309 stop gained -/ATTA delins 4
rs1553333753 0.925 0.160 2 47806643 splice donor variant -/ATTT delins 4
rs267608077 0.925 0.160 2 47799112 frameshift variant AGAGA/- delins 4
rs267608094 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 4
rs267608098 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 4
rs267608121 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 4