Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060502277
PTCH1
1.000 0.160 9 95476758 splice donor variant C/A;T snv 1
rs1060502278
PTCH1
1.000 0.160 9 95458207 stop gained C/A snv 1
rs1060502280
PTCH1
1.000 0.160 9 95485814 frameshift variant TA/- delins 1
rs1060502285
PTCH1
1.000 0.160 9 95456414 splice acceptor variant C/T snv 1
rs1060502286
PTCH1
1.000 0.160 9 95479006 frameshift variant AT/- delins 1
rs1060502287
PTCH1
1.000 0.160 9 95481987 stop gained C/T snv 1
rs1060502294
PTCH1 ; LOC100507346
1.000 0.160 9 95467333 frameshift variant -/A delins 1
rs1060502295
PTCH1
1.000 0.160 9 95478094 frameshift variant G/- del 1
rs1060502297
PTCH1
1.000 0.160 9 95479060 frameshift variant G/- del 1
rs1060502298
PTCH1
1.000 0.160 9 95458178 stop gained A/T snv 1
rs1064793922
PTCH1
1.000 0.160 9 95482198 stop gained C/A;T snv 1
rs1333346461
PTCH1
1.000 0.160 9 95485690 stop gained G/A;T snv 7.0E-06 1
rs1344258746
PTCH1
1.000 0.160 9 95485821 stop gained C/A;T snv 1
rs1356231878
PTCH1
1.000 0.160 9 95459685 stop gained A/C;G snv 4.0E-06 1
rs1432645175
PTCH1
1.000 0.160 9 95479006 stop gained A/C;G snv 1
rs1554689667
PTCH1
1.000 0.160 9 95449847 frameshift variant ATAT/GGA delins 1
rs1554690411
PTCH1
1.000 0.160 9 95453498 frameshift variant GA/- delins 1
rs1554691354
PTCH1
1.000 0.160 9 95458055 frameshift variant -/A delins 1
rs1554691423
PTCH1
1.000 0.160 9 95458249 frameshift variant -/TCTAC ins 1
rs1554692266
PTCH1 ; LOC100507346
1.000 0.160 9 95461920 frameshift variant C/- delins 1
rs1554692291
LOC100507346 ; PTCH1
1.000 0.160 9 95461940 stop gained G/C snv 1
rs1554695039
LOC100507346 ; PTCH1
1.000 0.160 9 95468939 stop gained G/A snv 1
rs1554695251
PTCH1 ; LOC100507346
1.000 0.160 9 95469116 frameshift variant C/- delins 1
rs1554695612
PTCH1 ; LOC100507346
1.000 0.160 9 95469903 frameshift variant GCA/CC delins 1
rs1554697839
PTCH1
1.000 0.160 9 95476041 frameshift variant AACGCCCGCAGAG/- delins 1