Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0