MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: CRANIOSYNOSTOSIS, TYPE 2 ×
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: rs104893895
rs104893895 		0.882 0.160 5 174729222 missense variant C/A;T snv
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 7 1993 2013