Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917712
rs121917712
GLI3
1 1.000 0.080 7 41972567 missense variant G/A snv 0.800 1.000 4 1997 2003
dbSNP: rs28933372
rs28933372
GLI3
5 0.827 0.120 7 41966273 missense variant C/G snv 0.710 1.000 5 1997 2013
dbSNP: rs121917714
rs121917714
GLI3
2 0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs121917716
rs121917716
GLI3
1 1.000 0.080 7 41967908 missense variant G/A snv 2.7E-04 2.7E-04 0.700 1.000 4 1997 2003
dbSNP: rs1057520063
rs1057520063
GLI3
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 1.000 3 2010 2016
dbSNP: rs116840766
rs116840766
GLI3
2 0.925 0.160 7 41965749 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs1375768446
rs1375768446
GLI3
2 0.925 0.160 7 42040037 splice donor variant C/T snv 7.0E-06 0.700 1.000 2 1999 2005
dbSNP: rs1554306094
rs1554306094
GLI3
2 0.925 0.160 7 41972566 missense variant C/T snv 0.700 1.000 2 2005 2015
dbSNP: rs116840770
rs116840770
GLI3
2 0.925 0.160 7 41965592 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121917711
rs121917711
GLI3
1 1.000 0.080 7 41978619 stop gained C/A snv 0.700 0
dbSNP: rs121917713
rs121917713
GLI3
3 0.882 0.160 7 42040198 stop gained G/A snv 0.700 0
dbSNP: rs121917715
rs121917715
GLI3
1 1.000 0.080 7 42023479 stop gained G/A snv 0.700 0
dbSNP: rs1554304380
rs1554304380
GLI3
2 0.925 0.160 7 41964678 frameshift variant G/- delins 0.700 0
dbSNP: rs1554306093
rs1554306093
GLI3
2 0.925 0.160 7 41972562 frameshift variant T/- delins 0.700 0
dbSNP: rs1554317931
rs1554317931
GLI3
11 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
dbSNP: rs1562656759
rs1562656759
GLI3
2 0.925 0.160 7 41964575 stop gained C/A snv 0.700 0
dbSNP: rs1562657560
rs1562657560
GLI3
2 0.925 0.160 7 41965161 frameshift variant TGACTCATT/A delins 0.700 0
dbSNP: rs1562690271
rs1562690271
GLI3
2 0.925 0.160 7 42023514 stop gained C/T snv 0.700 0
dbSNP: rs772948115
rs772948115
GLI3
1 1.000 0.080 7 41966388 stop gained G/A;C snv 1.2E-05 1.4E-05 0.700 0