Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909106
rs121909106
FOXC2 ; FOXC2-AS1
0.810 GeneticVariation BEFREE We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model. 16081467

2005
dbSNP: rs121909106
rs121909106
FOXC2 ; FOXC2-AS1
0.810 GeneticVariation UNIPROT Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 11371511

2001
dbSNP: rs121909106
rs121909106
FOXC2 ; FOXC2-AS1
0.810 GeneticVariation UNIPROT Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. 11499682

2001
dbSNP: rs121909106
rs121909106
FOXC2 ; FOXC2-AS1
0.810 GeneticVariation UNIPROT Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 11078474

2000
dbSNP: rs121909106
rs121909106
FOXC2 ; FOXC2-AS1
T 0.810 CausalMutation CLINVAR