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VSX1

From SNPedia

is agene
is mentioned by
Full namevisual system homeobox 1
EntrezGene30813
PheGenI30813
VariationViewer30813
ClinVarVSX1
GeneCardsVSX1
dbSNP30813
DiseasesVSX1
SADR30813
HugeNav30813
wikipediaVSX1
googleVSX1
gopubmedVSX1
EVSVSX1
HEFalMpVSX1
MyGene2VSX1
23andMeVSX1
UniProtQ9NZR4
EnsemblENSG00000100987
OMIM605020
# SNPs8
 Max MagnitudeChromosome positionSummary
rs1248030725,078,910
rs605030725,081,706
rs613848225,078,806
rs74315432425,079,443
rs74315433425,079,460
rs74315434025,079,464
rs74315435425,077,727
rs74315436425,082,047

The visual system homeobox 1 VSX1 gene, found on chromosome 20, encodes a protein containing a paired-like homeodomain which binds to the core of the locus control region of the red/green visual pigment gene cluster.

Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus.

The VSX1 gene SNPs in SNPedia with their ClinVar annotations are shown below, including which (if any) DTC genomic tests assay them in this table:

 In geneOn microarrayClinVar CLNSIGClinVar CLNDBN
rs74315432VSX1Ancestry v25Keratoconus 1
rs74315435VSX15Craniofacial anomalies and anterior segment dysgenesis syndrome
rs74315436VSX1Ancestry v25Keratoconus 1
Posterior Polymorphous Corneal Dystrophy
rs74315433VSX13Posterior polymorphous corneal dystrophy 1
Posterior Polymorphous Corneal Dystrophy
not specified
rs6050307VSX12Posterior Polymorphous Corneal Dystrophy
rs12480307VSX1Affy GenomeWide 6
HumanOmni1Quad
Ancestry v2
2not specified
Posterior Polymorphous Corneal Dystrophy