RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly ×
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: rs606231174
rs606231174 		1.000 0.080 6 45422754 inframe insertion TGCGGCGGCGGCGGCGGCTGCGGCGGCGGC/-;TGCGGCGGCGGCGGCGGCTGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGC delins
CUI: C1861516
Disease: Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0