ZNF469 Chromosome 16
Zinc finger protein 469
Upload your DNA to see your personal genotypes for variants in ZNF469.
What This Gene Does
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
16q24.2
Ensembl
ENSG00000225614
Associated Conditions (8)
Cardiovascular phenotype
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
ZNF469-related disorder
Brittle cornea syndrome
Keratoconus 1
Keratoconus
Connective tissue disorder
Key Variants
RS1002115521
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1002770054
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS1003226456
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1003677220
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1004428835
Conflicting classifications of pathogenicity
Brittle cornea syndrome 1, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS1006857833
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1009769670
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS1010145375
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS1010183160
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1011558573
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1011775158
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Ehlers-Danlos syndrome, Cardiovascular phenotype
Health Risk
RS1015197481
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (571)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1906051274 | Health Risk | Likely pathogenic | — |
| RS1906069048 | Health Risk | Likely pathogenic | — |
| RS1906662179 | Health Risk | Likely pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS2142300893 | Health Risk | Likely pathogenic | — |
| RS2142304720 | Health Risk | Likely pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS2507590403 | Health Risk | Likely pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS2507591028 | Health Risk | Likely pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS2507597777 | Health Risk | Likely pathogenic | — |
| RS2507597837 | Health Risk | Likely pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS273585632 | Health Risk | Likely pathogenic | Keratoconus 1, Keratoconus 1 |
| RS273585637 | Health Risk | Likely pathogenic | Keratoconus 1, Keratoconus 1 |
| RS760186083 | Health Risk | Likely pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS762301873 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Ehlers-Danlos syndrome, Cardiovascular phenotype |
| RS764745826 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1163546262 | Health Risk | Pathogenic | — |
| RS1163546793 | Health Risk | Pathogenic | — |
| RS1222304580 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1228095903 | Health Risk | Pathogenic | — |
| RS1232391570 | Health Risk | Pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS1248028929 | Health Risk | Pathogenic | — |
| RS1259194902 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1279489246 | Health Risk | Pathogenic | — |
| RS1286871460 | Health Risk | Pathogenic | — |
| RS1319938948 | Health Risk | Pathogenic | — |
| RS1348745245 | Health Risk | Pathogenic | — |
| RS1349347394 | Health Risk | Pathogenic | — |
| RS1350473091 | Health Risk | Pathogenic | — |
| RS1368497638 | Health Risk | Pathogenic | — |
| RS1484586294 | Health Risk | Pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS1555519354 | Health Risk | Pathogenic | — |
| RS1567515498 | Health Risk | Pathogenic | — |
| RS1597210953 | Health Risk | Pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS1597213727 | Health Risk | Pathogenic | — |
| RS1905764128 | Health Risk | Pathogenic | — |
| RS1906054627 | Health Risk | Pathogenic | — |
| RS1906110243 | Health Risk | Pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS1906134276 | Health Risk | Pathogenic | — |
| RS1906174955 | Health Risk | Pathogenic | — |
| RS1906581372 | Health Risk | Pathogenic | — |
| RS1906604347 | Health Risk | Pathogenic | — |
| RS2142297368 | Health Risk | Pathogenic | — |
| RS2142301692 | Health Risk | Pathogenic | — |
| RS2142314304 | Health Risk | Pathogenic | Brittle cornea syndrome 1, Brittle cornea syndrome 1 |
| RS2507569796 | Health Risk | Pathogenic | — |
| RS2507569825 | Health Risk | Pathogenic | — |
| RS2507569998 | Health Risk | Pathogenic | — |
| RS2507570059 | Health Risk | Pathogenic | — |
| RS2507570117 | Health Risk | Pathogenic | — |
| RS2507570751 | Health Risk | Pathogenic | — |
| RS2507570767 | Health Risk | Pathogenic | — |