MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Disease: OROFACIAL CLEFT 5 ×
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: rs28928890
rs28928890 		1.000 0.120 4 4860150 missense variant A/G;T snv 9.6E-06
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2003 2003
dbSNP: rs28933081
rs28933081 		1.000 0.120 4 4860264 missense variant G/A;T snv 4.1E-05
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2003 2003
dbSNP: rs150284621
rs150284621 		1.000 0.120 4 4862702 missense variant G/A;T snv 8.2E-06; 2.3E-04
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs759548721
rs759548721 		1.000 0.120 4 4860258 missense variant T/G snv 1.8E-04 1.6E-04
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs104893854
rs104893854 		1.000 0.120 4 4860357 missense variant C/A;G;T snv 1.5E-04; 4.5E-06; 4.5E-06
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0