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.