GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Pallister-Hall syndrome ×
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: 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: 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: 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: 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: rs116840742
rs116840742 		1.000 0.160 7 41972434 frameshift variant TCGG/- 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 0
dbSNP: rs116840743
rs116840743 		1.000 0.160 7 41972428 frameshift variant C/- 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 0
dbSNP: rs116840744
rs116840744 		1.000 0.160 7 41972417 frameshift variant C/- del
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840745
rs116840745 		1.000 0.160 7 41972408 frameshift variant C/- 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 0
dbSNP: rs116840746
rs116840746 		1.000 0.160 7 41972381 stop gained CC/AT mnv
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840747
rs116840747 		1.000 0.160 7 41972378 stop gained C/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 0
dbSNP: rs116840748
rs116840748 		1.000 0.160 7 41967917 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 0
dbSNP: rs116840749
rs116840749 		1.000 0.160 7 41967888 frameshift variant G/- del
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840750
rs116840750 		1.000 0.160 7 41967881 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 0
dbSNP: rs116840751
rs116840751 		1.000 0.160 7 41967878 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 0
dbSNP: rs116840752
rs116840752 		1.000 0.160 7 41967870 frameshift variant G/- 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 0
dbSNP: rs116840753
rs116840753 		1.000 0.160 7 41967854 frameshift variant -/G 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 0
dbSNP: rs116840754
rs116840754 		1.000 0.160 7 41967821 frameshift variant CATCGGTCAGAGGAAGCTC/- 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 0
dbSNP: rs116840755
rs116840755 		1.000 0.160 7 41967829 frameshift variant GT/- del
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840756
rs116840756 		1.000 0.160 7 41967671 frameshift variant GTTTTAGCCTT/- 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 0
dbSNP: rs116840757
rs116840757 		1.000 0.160 7 41967672 frameshift variant GTTTT/- 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 0
dbSNP: rs116840758
rs116840758 		1.000 0.160 7 41967595 splice donor variant 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 0
dbSNP: rs116840759
rs116840759 		1.000 0.160 7 41966590 frameshift variant G/- 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 0
dbSNP: rs116840760
rs116840760 		1.000 0.160 7 41966506 stop gained G/A;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 0
dbSNP: rs116840761
rs116840761 		1.000 0.160 7 41966453 frameshift variant G/- 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 0