GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917712
rs121917712 		1.000 0.080 7 41972567 missense variant G/A snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 1997 2003
dbSNP: rs28933372
rs28933372 		0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 5 1997 2013
dbSNP: rs121917714
rs121917714 		0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2016 2016
dbSNP: rs121917716
rs121917716 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 1997 2003
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2010 2016
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2010 2016
dbSNP: rs116840766
rs116840766 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2005 2016
dbSNP: rs116840766
rs116840766 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2005 2016
dbSNP: rs1375768446
rs1375768446 		0.925 0.160 7 42040037 splice donor variant C/T snv 7.0E-06
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1999 2005
dbSNP: rs1375768446
rs1375768446 		0.925 0.160 7 42040037 splice donor variant C/T snv 7.0E-06
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 1999 2005
dbSNP: rs1554306094
rs1554306094 		0.925 0.160 7 41972566 missense variant C/T snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2005 2015
dbSNP: rs1554306094
rs1554306094 		0.925 0.160 7 41972566 missense variant C/T snv
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2005 2015
dbSNP: rs10269139
rs10269139 		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 		1.000 0.040 7 42232361 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1057518698
rs1057518698 		1.000 0.080 7 41967775 frameshift variant T/- del
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1060499558
rs1060499558 		0.925 0.080 7 41965438 frameshift variant C/- delins
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499558
rs1060499558 		0.925 0.080 7 41965438 frameshift variant C/- delins
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs116840770
rs116840770 		0.925 0.160 7 41965592 stop gained G/A snv
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs116840770
rs116840770 		0.925 0.160 7 41965592 stop gained G/A snv
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121917710
rs121917710 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1999 1999
dbSNP: rs2051935
rs2051935 		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 		1.000 0.080 7 42086272 intron variant T/C snv 0.20
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2237422
rs2237422 		7 42061332 intron variant C/T snv 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3801203
rs3801203 		7 42148801 intron variant C/A snv 0.13
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2017 2017
dbSNP: rs3801234
rs3801234 		1.000 0.040 7 42217585 intron variant C/G snv 3.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017