| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
[PMID 19607881] A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
[PMID 15307048
] A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.
[PMID 17948041] A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia.
[PMID 19142206] Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
[PMID 19907666] AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.
[PMID 21348901] PAX6 polymorphisms in 20 Chinese children with supernumerary teeth in the maxillary incisor area.
| ClinVar
|
| Risk
|
rs667773(T;T) |
| Alt
|
rs667773(T;T) |
| Reference
|
Rs667773(C;C) |
| Significance |
Non-pathogenic |
| Disease |
not specified Keratitis Aniridia Anophthalmia Foveal hypoplasia and presenile cataract syndrome Wilms tumor Peters anomaly |
| Variation | info |
|---|
| Gene |
PAX6 |
| CLNDBN |
not specified Keratitis, hereditary Aniridia Anophthalmia Foveal hypoplasia and presenile cataract syndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Aniridia, Cerebellar Ataxia, And Intellectual Disability Peters anomaly |
| Reversed |
1 |
| HGVS |
NC_000011.9:g.31815362G>A |
| CLNSRC |
|
| CLNACC |
RCV000248742.2, RCV000269341.1, RCV000284718.1, RCV000329038.1, RCV000339789.1, RCV000380248.1, RCV000382578.1, RCV000383559.1, |
] A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.
