ZNF469 Chromosome 16

Zinc finger protein 469
571 variants 571 Health Risk

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
RS753881778 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS754101639 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754458926 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Cardiovascular phenotype
RS754730500 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754776767 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1, Cardiovascular phenotype
RS755200044 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755244502 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755348435 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS755640019 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755977911 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS755989926 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756276800 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756344990 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756543273 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Brittle cornea syndrome 1, Cardiovascular phenotype
RS756703220 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS757300563 Health Risk Conflicting classifications of pathogenicity —
RS757534069 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757657013 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757999676 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS758123475 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 1
RS758146135 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758193918 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS758312819 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758398877 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1, Cardiovascular phenotype
RS759032227 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS759081607 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759327672 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS759380807 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759634111 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS759962057 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759998900 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS760206158 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS760409743 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS760816769 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS761152033 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761232264 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761550303 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761603858 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS762382027 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS763826959 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS764273631 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764470052 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Cardiovascular phenotype
RS764487066 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS764653097 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765028361 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765190704 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765397845 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765651977 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS766410344 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS766853024 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype, ZNF469-related disorder
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