Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519592
rs1057519592
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
TA 0.700 GeneticVariation CLINVAR Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. 22777675 2012