Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909107
rs121909107
FOXC2 ; FOXC2-AS1
0.710 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: rs121909107
rs121909107
FOXC2 ; FOXC2-AS1
A 0.710 CausalMutation CLINVAR