TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: Short nose ×
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: rs1057518864
rs1057518864 		0.925 18 55350409 splice acceptor variant C/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0