Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041506
rs886041506
TCOF1
A 0.700 CausalMutation CLINVAR Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 22317976

2012
dbSNP: rs886041506
rs886041506
TCOF1
A 0.700 CausalMutation CLINVAR Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. 8894686

1996