rs4504469
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;T) | 1.5x risk | |
| (T;T) | > 1.5x risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 24588656 |
| Gene | KIAA0319 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4504469 |
| dbSNP (classic) | rs4504469 |
| ClinGen | rs4504469 |
| ebi | rs4504469 |
| HLI | rs4504469 |
| Exac | rs4504469 |
| Gnomad | rs4504469 |
| Varsome | rs4504469 |
| LitVar | rs4504469 |
| Map | rs4504469 |
| PheGenI | rs4504469 |
| Biobank | rs4504469 |
| 1000 genomes | rs4504469 |
| hgdp | rs4504469 |
| ensembl | rs4504469 |
| geneview | rs4504469 |
| scholar | rs4504469 |
| rs4504469 | |
| pharmgkb | rs4504469 |
| gwascentral | rs4504469 |
| openSNP | rs4504469 |
| 23andMe | rs4504469 |
| SNPshot | rs4504469 |
| SNPdbe | rs4504469 |
| MSV3d | rs4504469 |
| GWAS Ctlg | rs4504469 |
| GMAF | 0.2332 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Rs4504469, a nonsynonymous SNP in exon 4 of the KIAA0319 gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the Caucasian populations studied is (T).
The odds ratio in a study of case:control study of ~400 Caucasians associated with rs4504469(T) is 1.51 (CI: 1.17–1.95, p = 0.002). [PMID 15717286
]
| ClinVar | |
|---|---|
| Risk | Rs4504469(T;T) |
| Alt | Rs4504469(T;T) |
| Reference | Rs4504469(C;C) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | KIAA0319 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000006.11:g.24588884C>T |
| CLNSRC | |
| CLNACC | |
[PMID 15514892] A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.
[PMID 16385449] Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.
[PMID 19325871] A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
[PMID 19997522] Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment.
[PMID 23677054] Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population
