VSX1

is a	gene
is	mentioned by
Full name	visual system homeobox 1
EntrezGene	30813
PheGenI	30813
VariationViewer	30813
ClinVar	VSX1
GeneCards	VSX1
dbSNP	30813
Diseases	VSX1
SADR	30813
HugeNav	30813
wikipedia	VSX1
google	VSX1
gopubmed	VSX1
EVS	VSX1
HEFalMp	VSX1
MyGene2	VSX1
23andMe	VSX1
UniProt	Q9NZR4
Ensembl	ENSG00000100987
OMIM	605020
# SNPs	8

	Max Magnitude	Chromosome position	Summary
rs12480307	0	25,078,910
rs6050307	0	25,081,706
rs6138482	0	25,078,806
rs74315432	4	25,079,443
rs74315433	4	25,079,460
rs74315434	0	25,079,464
rs74315435	4	25,077,727
rs74315436	4	25,082,047

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 gene	On microarray	ClinVar CLNSIG	ClinVar CLNDBN
rs74315432	VSX1	Ancestry v2 23andMe v5 Ancestry v2c Ancestry v2d	5	Keratoconus 1
rs74315435	VSX1	Ancestry v2d	5	Craniofacial anomalies and anterior segment dysgenesis syndrome
rs74315436	VSX1	Ancestry v2 Ancestry v2c Ancestry v2d	5	Keratoconus 1 Posterior Polymorphous Corneal Dystrophy
rs74315433	VSX1	Ancestry v2d	3	Posterior Polymorphous Corneal Dystrophy Posterior polymorphous corneal dystrophy 1 not specified
rs12480307	VSX1	Ancestry v2 Ancestry v2c Affy GenomeWide 6 HumanOmni1Quad Ancestry v2d	2	not specified Posterior Polymorphous Corneal Dystrophy
rs6050307	VSX1		2	Posterior Polymorphous Corneal Dystrophy