TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: Fuchs Endothelial Dystrophy ×
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: rs613872
rs613872 		0.851 0.120 18 55543071 intron variant G/T snv 0.88
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 15 2010 2019
dbSNP: rs1348047
rs1348047 		1.000 0.080 18 55382827 intron variant G/T snv 0.26
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2019 2019
dbSNP: rs1452787
rs1452787 		0.827 0.160 18 55539976 intron variant A/G snv 0.24
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17089887
rs17089887 		1.000 0.080 18 55541025 intron variant T/C snv 6.9E-02
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014