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
RS540443650 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS540655479 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, ZNF469-related disorder
RS541325052 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS543285355 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1, Cardiovascular phenotype
RS543370102 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS543669472 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS544693811 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS544832628 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS546137802 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype, ZNF469-related disorder
RS546141859 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1, Cardiovascular phenotype
RS546280073 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS546845105 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS547014159 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS547200758 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS548544358 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS548681380 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS548910839 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS549874193 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS550109690 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS550263442 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS552116287 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS552311966 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS553227769 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS553460850 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS553909579 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 1
RS554464152 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS554795578 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, ZNF469-related disorder
RS554985503 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, Brittle cornea syndrome 1
RS555047442 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS555256402 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS555406841 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS555522972 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS557063759 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS557351664 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS557636016 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS558035857 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype, Brittle cornea syndrome 1
RS558108271 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Brittle cornea syndrome 1, Cardiovascular phenotype
RS559099409 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS560911127 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS561239255 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS561743358 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS561879014 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder, Cardiovascular phenotype
RS562264117 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS56236932 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 1
RS562527410 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS563202944 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype, ZNF469-related disorder
RS563324563 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS564352128 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS564413710 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS565994438 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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