HOXC12, homeobox C12, 3228

N. diseases: 5; N. variants: 3
Disease: Congenital clubfoot ×
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: rs189468720
rs189468720 		0.925 0.080 12 53955457 missense variant C/G snv 3.6E-03 3.6E-03
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016