Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039506 0.882 0.160 9 127829770 stop gained G/A snv 3
rs267606783
ENG
0.925 0.120 9 127854354 start lost A/C;G snv 2
rs878853659
ENG
0.925 0.120 9 127843246 splice acceptor variant C/T snv 2
rs1085307433 0.925 0.160 9 127818734 frameshift variant C/- delins 2
rs121918400 0.925 0.120 9 127824960 stop gained G/A;C;T snv 8.0E-06 2
rs1554810378 0.925 0.120 9 127825722 missense variant A/G snv 2
rs373842615 0.925 0.120 9 127819662 splice acceptor variant T/C snv 4.2E-06 2
rs863223538 0.925 0.120 9 127818220 missense variant C/T snv 4.0E-06 2
rs1060501410 0.925 0.120 9 127824800 missense variant C/T snv 2
rs1329127701 0.925 0.120 9 127824304 splice region variant C/T snv 2
rs1554810408 0.925 0.120 9 127825792 inframe deletion CGCCACTCGAGC/- delins 2
rs878853657 0.925 0.120 9 127826586 missense variant C/G snv 2
rs886039505 0.925 0.120 9 127829686 splice donor variant C/T snv 2
rs1060501408
ENG
1.000 0.120 9 127854482 5 prime UTR variant G/A snv 1
rs1060501418
ENG
1.000 0.120 9 127854355 start lost T/C;G snv 1
rs1252348200
ENG
1.000 0.120 9 127843168 missense variant C/A;T snv 4.0E-06 1
rs1554812253
ENG
1.000 0.120 9 127843093 splice donor variant C/T snv 1
rs1564466414
ENG
1.000 0.120 9 127854333 missense variant A/G snv 1
rs369596004
ENG
1.000 0.120 9 127843194 frameshift variant C/- delins 1
rs755348996
ENG
1.000 0.120 9 127843094 splice region variant C/A;T snv 8.0E-06; 1.6E-05 1
rs773334730
ENG
1.000 0.120 9 127843248 splice region variant G/A;C snv 4.0E-06 1
rs878853658
ENG
1.000 0.120 9 127854289 frameshift variant T/- delins 1
rs1057521648 1.000 0.120 9 127818341 stop gained G/A snv 1
rs1060501412 1.000 0.120 9 127818720 frameshift variant ACAAAGCTCT/- del 1
rs1060501422 1.000 0.120 9 127819973 frameshift variant C/- delins 1