Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568303086
rs1568303086
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
A 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. 24077912 2014
dbSNP: rs1568303086
rs1568303086
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
A 0.700 GeneticVariation CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011