CHRDL1 Chromosome X
Chordin like 1
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What This Gene Does
This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
Gene Info
Gene Group
Chordin family
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000101938
Associated Conditions (5)
Inborn genetic diseases
Colon adenocarcinoma
Familial cancer of breast
Isolated congenital megalocornea
Megalocornea
Key Variants
RS1131691468
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189640632
Conflicting classifications of pathogenicity
Inborn genetic diseases, Colon adenocarcinoma, Familial cancer of breast
Health Risk
RS2148418732
Likely pathogenic
Isolated congenital megalocornea, Isolated congenital megalocornea
Health Risk
RS2148465558
Likely pathogenic
Megalocornea, Megalocornea
Health Risk
RS1057516043
Pathogenic
Megalocornea, Megalocornea
Health Risk
RS2090111362
Pathogenic
Megalocornea, Megalocornea
Health Risk
RS2148409694
Pathogenic
Megalocornea, Megalocornea
Health Risk
RS2148409748
Pathogenic
Megalocornea, Megalocornea
Health Risk
RS2148418538
Pathogenic
Megalocornea, Megalocornea
Health Risk
RS2148463846
Pathogenic
Megalocornea, Megalocornea
Health Risk
RS2148509595
Pathogenic
Isolated congenital megalocornea, Isolated congenital megalocornea
Health Risk
RS2520472984
Pathogenic
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691468 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189640632 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Colon adenocarcinoma, Familial cancer of breast |
| RS2148418732 | Health Risk | Likely pathogenic | Isolated congenital megalocornea, Isolated congenital megalocornea |
| RS2148465558 | Health Risk | Likely pathogenic | Megalocornea, Megalocornea |
| RS1057516043 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS2090111362 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS2148409694 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS2148409748 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS2148418538 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS2148463846 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS2148509595 | Health Risk | Pathogenic | Isolated congenital megalocornea, Isolated congenital megalocornea |
| RS2520472984 | Health Risk | Pathogenic | — |
| RS387906713 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS387906714 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS398122851 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS398122852 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS587776868 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS775515705 | Health Risk | Pathogenic | Megalocornea, Megalocornea |
| RS863225435 | Health Risk | Pathogenic | Megalocornea, Megalocornea |