Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554840869
ACTR1A ; SUFU
0.925 0.160 10 102504322 frameshift variant -/C delins 2
rs1564654588
SUFU ; ACTR1A
0.925 0.160 10 102504327 stop gained A/T snv 2
rs1554841447
SUFU
0.925 0.160 10 102509168 splice acceptor variant G/A snv 2
rs1060501108
SUFU
0.925 0.160 10 102549993 frameshift variant G/- del 2
rs1060501109
SUFU
0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 2
rs1564676479
SUFU
0.925 0.160 10 102550107 splice donor variant G/A snv 2
rs1554852279
SUFU
0.925 0.160 10 102592711 frameshift variant -/TA delins 2
rs1564698683
SUFU
0.925 0.160 10 102597207 stop gained G/A snv 2
rs1477199832
SUFU
0.925 0.160 10 102597223 frameshift variant -/C delins 2
rs1564698850
SUFU
0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 2
rs587776578
SUFU
0.882 0.160 10 102599545 splice donor variant G/A;C snv 3
rs1060501105
SUFU
0.925 0.160 10 102615266 splice acceptor variant A/T snv 2
rs121434397
PTCH2
1.000 0.160 1 44827617 missense variant C/T snv 2.8E-05 7.0E-06 1
rs56126236
PTCH2
0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 2
rs1356844630
GLI1
0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 5
rs1554689667
PTCH1
1.000 0.160 9 95449847 frameshift variant ATAT/GGA delins 1
rs1131690985
PTCH1
0.925 0.200 9 95449891 missense variant C/T snv 3
rs1564009755
PTCH1
1.000 0.160 9 95449902 frameshift variant C/- delins 1
rs1060502264
PTCH1
1.000 0.160 9 95449930 frameshift variant C/- del 1
rs863224443
PTCH1
1.000 0.160 9 95449942 splice acceptor variant T/C snv 1
rs863224442
PTCH1
1.000 0.160 9 95453477 splice donor variant C/T snv 1
rs1554690411
PTCH1
1.000 0.160 9 95453498 frameshift variant GA/- delins 1
rs878853856
PTCH1
1.000 0.160 9 95453533 missense variant A/G snv 1
rs1060502273
PTCH1
1.000 0.160 9 95453562 frameshift variant AT/- del 2
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv 3