HESX1, HESX homeobox 1, 8820

N. diseases: 143; N. variants: 22
Disease: Septo-Optic Dysplasia ×
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: rs28936702
rs28936702 		1.000 0.080 3 57198277 missense variant G/A snv 8.0E-06
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 4 1998 2016
dbSNP: rs121909173
rs121909173 		0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 0.750 4 2001 2016
dbSNP: rs1238248024
rs1238248024 		0.925 0.080 3 57198953 splice acceptor variant C/A;G snv
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2009
dbSNP: rs104893742
rs104893742 		0.882 0.160 3 57198405 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2001 2007
dbSNP: rs28936703
rs28936703 		1.000 0.080 3 57198246 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 1998 2001
dbSNP: rs28936704
rs28936704 		1.000 0.080 3 57198214 missense variant T/C snv 1.0E-04 7.7E-05
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2001 2007
dbSNP: rs28936416
rs28936416 		0.925 0.120 3 57199842 missense variant A/G snv
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs754137696
rs754137696 		0.925 0.160 3 57198797 missense variant A/C snv 1.9E-04 1.4E-05
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs768165720
rs768165720 		0.925 0.120 3 57198784 missense variant C/T snv 7.6E-05 1.1E-04
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs777223697
rs777223697 		0.925 0.160 3 57198802 stop gained A/T snv 8.0E-06
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs777833871
rs777833871 		0.925 0.160 3 57198870 frameshift variant T/- del 1.4E-05
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs9878928
rs9878928 		0.925 0.080 3 57198476 missense variant T/C snv 1.8E-02 7.4E-02
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010