rs1568523662, TCF4

N. diseases: 1
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.
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
58 1.000 0.200 18 55261515 frameshift variant CCCGC/- delins 0.700 0