rs398123561, TCF4

N. diseases: 2
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.
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
58 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0