MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Disease: Cleft palate with cleft 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: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2020 2020