ALX3, ALX homeobox 3, 257

N. diseases: 91; N. variants: 7
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: rs121908166
rs121908166 		1.000 0.080 1 110061550 missense variant T/C snv
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121908167
rs121908167 		1.000 0.080 1 110064679 missense variant G/C snv 4.0E-06
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121908168
rs121908168 		1.000 0.080 1 110064634 missense variant G/A snv 8.0E-06
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121908170
rs121908170 		1.000 0.080 1 110064595 missense variant G/A snv 8.0E-06
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121908169
rs121908169 		1.000 0.080 1 110064638 stop gained A/T snv 4.0E-06 2.1E-05
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553196068
rs1553196068 		1.000 0.080 1 110061028 frameshift variant AG/- del
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906319
rs387906319 		1.000 0.080 1 110064600 frameshift variant TCAG/- delins
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0