Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs780263938
GLI3
0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06 3
rs121917713
GLI3
0.882 0.160 7 42040198 stop gained G/A snv 3
rs1554306094
GLI3
0.925 0.160 7 41972566 missense variant C/T snv 2
rs1375768446
GLI3
0.925 0.160 7 42040037 splice donor variant C/T snv 7.0E-06 2
rs1562657560
GLI3
0.925 0.160 7 41965161 frameshift variant TGACTCATT/A delins 2
rs1554306093
GLI3
0.925 0.160 7 41972562 frameshift variant T/- delins 2
rs116840766
GLI3
0.925 0.160 7 41965749 stop gained G/A;C;T snv 4.0E-06 2
rs121917709
GLI3
0.882 0.160 7 41972513 stop gained G/A snv 2
rs116840770
GLI3
0.925 0.160 7 41965592 stop gained G/A snv 2
rs1562656759
GLI3
0.925 0.160 7 41964575 stop gained C/A snv 2
rs1554304380
GLI3
0.925 0.160 7 41964678 frameshift variant G/- delins 2
rs1562690271
GLI3
0.925 0.160 7 42023514 stop gained C/T snv 2
rs1060499558
GLI3
0.925 0.080 7 41965438 frameshift variant C/- delins 2
rs121917710
GLI3
0.925 0.080 7 41967848 missense variant C/T snv 5.3E-03 5.1E-03 1
rs116840753
GLI3
1.000 0.160 7 41967854 frameshift variant -/G delins 1
rs116840755
GLI3
1.000 0.160 7 41967829 frameshift variant GT/- del 1
rs116840752
GLI3
1.000 0.160 7 41967870 frameshift variant G/- delins 1
rs116840746
GLI3
1.000 0.160 7 41972381 stop gained CC/AT mnv 1
rs116840768
GLI3
1.000 0.160 7 41965634 stop gained C/A;G snv 8.0E-06 1
rs116840742
GLI3
1.000 0.160 7 41972434 frameshift variant TCGG/- delins 1
rs116840750
GLI3
1.000 0.160 7 41967881 stop gained G/A snv 1
rs116840767
GLI3
1.000 0.160 7 41965686 frameshift variant AA/-;A delins 1
rs116840759
GLI3
1.000 0.160 7 41966590 frameshift variant G/- delins 1