Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1275362181
rs1275362181
NCOR2
0.010 GeneticVariation BEFREE In the first family, a TCOF1 variant c.3156C>T was identified in the proband with Treacher Collins syndrome. 28921562

2017
dbSNP: rs1064794474
rs1064794474
TCOF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs119470016
rs119470016
TCOF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs119470017
rs119470017
TCOF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554078461
rs1554078461
TCOF1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1554080460
rs1554080460
TCOF1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1554081108
rs1554081108
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
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
dbSNP: rs1554081112
rs1554081112
TCOF1
C 0.700 CausalMutation CLINVAR Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 22317976

2012
dbSNP: rs1554081168
rs1554081168
TCOF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554136123
rs1554136123
TCOF1
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1554137419
rs1554137419
TCOF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554137531
rs1554137531
TCOF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554138811
rs1554138811
TCOF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554138819
rs1554138819
TCOF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1561540623
rs1561540623
TCOF1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1562347303
rs1562347303
TCOF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs28941769
rs28941769
TCOF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs587776580
rs587776580
TCOF1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs587776581
rs587776581
TCOF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776582
rs587776582
TCOF1
A 0.700 CausalMutation CLINVAR Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 21951868

2011
dbSNP: rs587776582
rs587776582
TCOF1
A 0.700 CausalMutation CLINVAR The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 9042910

1997
dbSNP: rs587776582
rs587776582
TCOF1
A 0.700 CausalMutation CLINVAR Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 22317976

2012
dbSNP: rs587776582
rs587776582
TCOF1
A 0.700 CausalMutation CLINVAR High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 11013442

2000
dbSNP: rs587776582
rs587776582
TCOF1
A 0.700 CausalMutation CLINVAR Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. 20003452

2009