TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: Dysmorphic features ×
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: rs1057521070
rs1057521070 		0.925 0.200 18 55228999 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555710171
rs1555710171 		1.000 18 55228904 inframe deletion GTCTGGGGCTTG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555721921
rs1555721921 		0.925 0.200 18 55234546 splice donor variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555778204
rs1555778204 		1.000 18 55261525 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555797248
rs1555797248 		1.000 18 55275735 frameshift variant C/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017