SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: CAMPOMELIC DYSPLASIA ×
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: rs137853130
rs137853130 		0.925 0.200 17 72122759 missense variant G/A snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 12 1995 2013