Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05 4
rs104894275
PTS
0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06 3
rs104894276
PTS
0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05 3
rs104894277
PTS
0.925 0.120 11 112230210 missense variant G/A;C snv 1.6E-05; 8.0E-06 2
rs104894278
PTS
0.925 0.120 11 112228649 missense variant A/G snv 4.0E-06 2
rs104894279
PTS
0.925 0.120 11 112233464 missense variant A/G snv 7.0E-06 2
rs104894280
PTS
0.925 0.120 11 112233205 missense variant G/A snv 4.0E-06 7.0E-06 2
rs1167104933
PTS
0.925 0.120 11 112226516 stop gained C/G;T snv 2
rs200712908
PTS
0.925 0.120 11 112233434 missense variant C/T snv 1.2E-04 9.8E-05 2
rs146727601 1.000 0.040 11 112247868 intron variant AT/-;ATAT delins 5.3E-02 1
rs104894273
PTS
1.000 0.120 11 112226517 missense variant G/A snv 1
rs104894274
PTS
1.000 0.120 11 112226489 missense variant C/T snv 2.0E-05 1.4E-05 1
rs1230781262
PTS
1.000 0.120 11 112228591 splice region variant C/G;T snv 2.4E-04 1
rs1256819927
PTS
1.000 0.120 11 112230231 splice donor variant G/T snv 4.0E-06 7.0E-06 1
rs1317230624
PTS
1.000 0.120 11 112226521 missense variant G/T snv 1.0E-05 1
rs1328320990
PTS
1.000 0.120 11 112228614 missense variant A/G snv 1.4E-05 1
rs1449216377
PTS
1.000 0.120 11 112228618 missense variant C/G snv 4.1E-06 1
rs145882709
PTS
1.000 0.120 11 112233216 stop gained C/A snv 2.8E-05 1.4E-05 1
rs150726932
PTS
1.000 0.120 11 112233487 missense variant G/T snv 7.2E-05 2.8E-05 1
rs1555198165
PTS
1.000 0.120 11 112229367 non coding transcript exon variant AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/- delins 1
rs1555198233
PTS
1.000 0.120 11 112230206 splice acceptor variant A/G snv 1
rs1555198263
PTS
1.000 0.120 11 112230664 frameshift variant TC/- delins 1
rs1555198451
PTS
1.000 0.120 11 112233162 splice acceptor variant G/T snv 1
rs1555198458
PTS
1.000 0.120 11 112233215 missense variant A/G snv 1
rs1555198462
PTS
1.000 0.120 11 112233234 splice donor variant G/C snv 1