Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516149
rs1057516149
0.800 GeneticVariation UNIPROT Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. 18484667

2010

dbSNP: rs1057516168
rs1057516168
0.800 GeneticVariation UNIPROT Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. 18484667

2010

dbSNP: rs1057516151
rs1057516151
0.800 GeneticVariation UNIPROT Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 18372316

2008

dbSNP: rs1057516151
rs1057516151
0.800 GeneticVariation UNIPROT Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. 18642388

2008

dbSNP: rs1057516153
rs1057516153
0.800 GeneticVariation UNIPROT Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 18372316

2008

dbSNP: rs1057516156
rs1057516156
0.800 GeneticVariation UNIPROT Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 18372316

2008

dbSNP: rs387906920
rs387906920
0.800 GeneticVariation UNIPROT Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 18372316

2008

dbSNP: rs387906920
rs387906920
0.800 GeneticVariation UNIPROT Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. 18642388

2008

dbSNP: rs797044527
rs797044527
0.800 GeneticVariation UNIPROT Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 18372316

2008

dbSNP: rs1057516168
rs1057516168
0.800 GeneticVariation UNIPROT Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). 15257268

2004

dbSNP: rs1057516153
rs1057516153
0.800 GeneticVariation UNIPROT Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087

2003

dbSNP: rs1057516156
rs1057516156
0.800 GeneticVariation UNIPROT FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 12529855

2003

dbSNP: rs797044527
rs797044527
0.800 GeneticVariation UNIPROT FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 12529855

2003

dbSNP: rs797044527
rs797044527
0.800 GeneticVariation UNIPROT Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. 11468277

2001

dbSNP: rs797044527
rs797044527
0.800 CausalMutation CLINVAR Blepharophimosis, Ptosis, and Epicanthus Inversus 20301614

1993

dbSNP: rs1057516149
rs1057516149
0.800 GeneticVariation CLINVAR

dbSNP: rs1057516151
rs1057516151
0.800 GeneticVariation CLINVAR

dbSNP: rs1057516153
rs1057516153
0.800 GeneticVariation CLINVAR

dbSNP: rs1057516156
rs1057516156
0.800 GeneticVariation CLINVAR

dbSNP: rs1057516168
rs1057516168
0.800 CausalMutation CLINVAR

dbSNP: rs387906920
rs387906920
0.800 CausalMutation CLINVAR

dbSNP: rs104893739
rs104893739
0.700 CausalMutation CLINVAR Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087

2003

dbSNP: rs28937884
rs28937884
0.700 GeneticVariation UNIPROT Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. 12630957

2003

dbSNP: rs104893741
rs104893741
0.700 CausalMutation CLINVAR Blepharophimosis, Ptosis, and Epicanthus Inversus 20301614

1993

dbSNP: rs121908359
rs121908359
0.700 CausalMutation CLINVAR Blepharophimosis, Ptosis, and Epicanthus Inversus 20301614

1993