rs1057518864, TCF4

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0