SOX6, SRY-box transcription factor 6, 55553

N. diseases: 105; N. variants: 46
Disease: Craniosynostosis ×
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: rs142511858
rs142511858 		1.000 0.080 11 16341047 missense variant C/T snv 1.3E-03 6.8E-04
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006