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
RS886052390 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, ZNF469-related disorder
RS886052392 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS886052399 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS886052401 Health Risk Conflicting classifications of pathogenicity —
RS886052412 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS886052415 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS887848152 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS896312288 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Brittle cornea syndrome 1, Cardiovascular phenotype
RS896587785 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS899515970 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS906913822 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS911235059 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS921811959 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS923668514 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS923827293 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS928731575 Health Risk Conflicting classifications of pathogenicity —
RS929128705 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS929163153 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS929337545 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS930146121 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1, Cardiovascular phenotype
RS930744713 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS935936614 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS940044560 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cardiovascular phenotype, Connective tissue disorder
RS944778197 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS948990641 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS950986305 Health Risk Conflicting classifications of pathogenicity —
RS953923193 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS955717531 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS955767732 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS957383204 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS958260291 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS958618412 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS969384437 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS973157263 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS973845764 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype, ZNF469-related disorder
RS975247998 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS976249492 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS977906765 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS985569633 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS990533400 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS991151770 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS992962962 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS993420527 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS996995845 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1064796800 Health Risk Likely pathogenic —
RS1361564558 Health Risk Likely pathogenic —
RS1567510759 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1567517877 Health Risk Likely pathogenic —
RS1905872842 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1905923050 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
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