TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 ×
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: rs1568305976
rs1568305976 		0.925 0.280 18 55229021 missense variant G/A snv
CUI: C2750451
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1568622225
rs1568622225 		0.925 0.280 18 55275712 frameshift variant C/- delins
CUI: C2750451
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0