TCF12, transcription factor 12, 6938

N. diseases: 102; N. variants: 19
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: rs1566992093
rs1566992093
1.000 0.080 15 57253469 splice donor variant G/C snv
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0