rs1555789019, 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.
Accessory nipple
CUI: C0266011
Disease: Accessory nipple
3 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
58 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
Short lower third of face
CUI: C3697248
Disease: Short lower third of face
3 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0