rs1568303086, TCF4

N. diseases: 5
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.
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
58 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014