Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.710 1.000 5 1997 2013
dbSNP: rs121917712
rs121917712
GLI3
1.000 0.080 7 41972567 missense variant G/A snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.800 1.000 4 1997 2003
dbSNP: rs121917716
rs121917716
GLI3
1.000 0.080 7 41967908 missense variant G/A snv 2.7E-04 2.7E-04
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 1.000 4 1997 2003
dbSNP: rs116840766
rs116840766
GLI3
0.925 0.160 7 41965749 stop gained G/A;C;T snv 4.0E-06
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 1.000 3 2005 2016
dbSNP: rs116840766
rs116840766
GLI3
0.925 0.160 7 41965749 stop gained G/A;C;T snv 4.0E-06
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.700 1.000 3 2005 2016
dbSNP: rs1375768446
rs1375768446
GLI3
0.925 0.160 7 42040037 splice donor variant C/T snv 7.0E-06
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.700 1.000 2 1999 2005
dbSNP: rs1375768446
rs1375768446
GLI3
0.925 0.160 7 42040037 splice donor variant C/T snv 7.0E-06
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 1.000 2 1999 2005
dbSNP: rs1554306094
rs1554306094
GLI3
0.925 0.160 7 41972566 missense variant C/T snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 1.000 2 2005 2015
dbSNP: rs1554306094
rs1554306094
GLI3
0.925 0.160 7 41972566 missense variant C/T snv
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.700 1.000 2 2005 2015
dbSNP: rs10269139
rs10269139
GLI3
7 42108589 intron variant C/T snv 0.31
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs10279985
rs10279985
GLI3
1.000 0.040 7 42232361 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs116840770
rs116840770
GLI3
0.925 0.160 7 41965592 stop gained G/A snv
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs116840770
rs116840770
GLI3
0.925 0.160 7 41965592 stop gained G/A snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs1213743797
rs1213743797
GLI3
1.000 7 41964929 missense variant C/G snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs121917709
rs121917709
GLI3
0.882 0.160 7 41972513 stop gained G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs121917710
rs121917710
GLI3
0.925 0.080 7 41967848 missense variant C/T snv 5.3E-03 5.1E-03
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.700 1.000 1 1999 1999
dbSNP: rs121917714
rs121917714
GLI3
0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.010 1.000 1 2016 2016
dbSNP: rs121917714
rs121917714
GLI3
0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.710 1.000 1 2016 2016
dbSNP: rs2051935
rs2051935
GLI3
7 41963902 3 prime UTR variant G/A snv 0.35
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2108166
rs2108166
GLI3
1.000 0.080 7 42086272 intron variant T/C snv 0.20
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs2237422
rs2237422
GLI3
7 42061332 intron variant C/T snv 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.010 1.000 1 2013 2013
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2013 2013
dbSNP: rs3801192
rs3801192
GLI3
1.000 0.120 7 42121928 intron variant C/T snv 9.5E-02
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		0.010 1.000 1 2010 2010