rs1555721921, TCF4

N. diseases: 3
Source: CURATED ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 0.200 18 55234546 splice donor variant A/C;G snv 0.700 1.000 22 2007 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.200 18 55234546 splice donor variant A/C;G snv 0.700 1.000 22 2007 2017
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
58 0.925 0.200 18 55234546 splice donor variant A/C;G snv 0.700 0