FOXC2 Chromosome 16
Forkhead box C2
Upload your DNA to see your personal genotypes for variants in FOXC2.
What This Gene Does
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000176692
Associated Conditions (5)
Distichiasis-lymphedema syndrome
Inborn genetic diseases
FOXC2-related disorder
Non-immune hydrops fetalis
LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS
Key Variants
RS138612549
Conflicting classifications of pathogenicity
Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome
Health Risk
RS145316350
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147258453
Conflicting classifications of pathogenicity
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
RS200483763
Conflicting classifications of pathogenicity
FOXC2-related disorder, Inborn genetic diseases, FOXC2-related disorder
Health Risk
RS201456476
Conflicting classifications of pathogenicity
Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome
Health Risk
RS764469563
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121909106
Likely pathogenic
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
RS1223233551
Likely pathogenic
Non-immune hydrops fetalis, Non-immune hydrops fetalis
Health Risk
RS1555531387
Likely pathogenic
Health Risk
RS1597402771
Likely pathogenic
Health Risk
RS1597402936
Likely pathogenic
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
RS1974216738
Likely pathogenic
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138612549 | Health Risk | Conflicting classifications of pathogenicity | Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome |
| RS145316350 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147258453 | Health Risk | Conflicting classifications of pathogenicity | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS200483763 | Health Risk | Conflicting classifications of pathogenicity | FOXC2-related disorder, Inborn genetic diseases, FOXC2-related disorder |
| RS201456476 | Health Risk | Conflicting classifications of pathogenicity | Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome |
| RS764469563 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS121909106 | Health Risk | Likely pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1223233551 | Health Risk | Likely pathogenic | Non-immune hydrops fetalis, Non-immune hydrops fetalis |
| RS1555531387 | Health Risk | Likely pathogenic | — |
| RS1597402771 | Health Risk | Likely pathogenic | — |
| RS1597402936 | Health Risk | Likely pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1974216738 | Health Risk | Likely pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS2144020781 | Health Risk | Likely pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS2507944638 | Health Risk | Likely pathogenic | — |
| RS2507945223 | Health Risk | Likely pathogenic | FOXC2-related disorder, FOXC2-related disorder |
| RS2507945808 | Health Risk | Likely pathogenic | FOXC2-related disorder, FOXC2-related disorder |
| RS2507945813 | Health Risk | Likely pathogenic | FOXC2-related disorder, FOXC2-related disorder |
| RS2507946080 | Health Risk | Likely pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1043354227 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS121909107 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1555531276 | Health Risk | Pathogenic | — |
| RS1555531333 | Health Risk | Pathogenic | — |
| RS1555531360 | Health Risk | Pathogenic | — |
| RS1567571065 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571075 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571141 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571276 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571345 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571360 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571564 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Non-immune hydrops fetalis, Distichiasis-lymphedema syndrome |
| RS1567571636 | Health Risk | Pathogenic | LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS |
| RS1567571702 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571823 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1567571863 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1597402505 | Health Risk | Pathogenic | — |
| RS1597402926 | Health Risk | Pathogenic | — |
| RS1597403198 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1974220729 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1974224118 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS1974228323 | Health Risk | Pathogenic | — |
| RS1974229664 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS2144018707 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS2144019324 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS2144020025 | Health Risk | Pathogenic | — |
| RS2507944348 | Health Risk | Pathogenic | — |
| RS2507944810 | Health Risk | Pathogenic | — |
| RS2507945608 | Health Risk | Pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS2507945700 | Health Risk | Pathogenic | FOXC2-related disorder, FOXC2-related disorder |
| RS886041497 | Health Risk | Pathogenic | — |
| RS104894516 | Health Risk | Pathogenic/Likely pathogenic | Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |