rs3026393
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs3026393(G;G) |
| Make rs3026393(G;T) |
| Make rs3026393(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 31790667 |
| Gene | PAX6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3026393 |
| dbSNP (classic) | rs3026393 |
| ClinGen | rs3026393 |
| ebi | rs3026393 |
| HLI | rs3026393 |
| Exac | rs3026393 |
| Gnomad | rs3026393 |
| Varsome | rs3026393 |
| LitVar | rs3026393 |
| Map | rs3026393 |
| PheGenI | rs3026393 |
| Biobank | rs3026393 |
| 1000 genomes | rs3026393 |
| hgdp | rs3026393 |
| ensembl | rs3026393 |
| geneview | rs3026393 |
| scholar | rs3026393 |
| rs3026393 | |
| pharmgkb | rs3026393 |
| gwascentral | rs3026393 |
| openSNP | rs3026393 |
| 23andMe | rs3026393 |
| SNPshot | rs3026393 |
| SNPdbe | rs3026393 |
| MSV3d | rs3026393 |
| GWAS Ctlg | rs3026393 |
| GMAF | 0.4509 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19124844] rs3026390 and rs3026393 showed significant association with high myopia. For rs3026393, the genotype relative risk was 2.57 for (G;T) and 2.22 for (T;T) vs (G;G)
[PMID 19607881] A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
[PMID 21589860
] PAX6 haplotypes are associated with high myopia in Han chinese
[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.
