Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554081112
rs1554081112
TCOF1
C 0.700 CausalMutation CLINVAR Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 22317976

2012
dbSNP: rs1554081112
rs1554081112
TCOF1
C 0.700 CausalMutation CLINVAR Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. 12114482

2002