MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Disease: Cleft upper lip ×
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: rs3821949
rs3821949 		1.000 0.080 4 4858675 upstream gene variant G/A snv 0.32
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 0.500 2 2011 2013
dbSNP: rs3775261
rs3775261 		1.000 0.080 4 4862018 intron variant C/A snv 0.30
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 < 0.001 1 2013 2013