rs2538991
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | higher risk of speech development delay and/or impairment | |
| (G;T) | None | |
| (T;T) | None |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 147882527 |
| Gene | CNTNAP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2538991 |
| dbSNP (classic) | rs2538991 |
| ClinGen | rs2538991 |
| ebi | rs2538991 |
| HLI | rs2538991 |
| Exac | rs2538991 |
| Gnomad | rs2538991 |
| Varsome | rs2538991 |
| LitVar | rs2538991 |
| Map | rs2538991 |
| PheGenI | rs2538991 |
| Biobank | rs2538991 |
| 1000 genomes | rs2538991 |
| hgdp | rs2538991 |
| ensembl | rs2538991 |
| geneview | rs2538991 |
| scholar | rs2538991 |
| rs2538991 | |
| pharmgkb | rs2538991 |
| gwascentral | rs2538991 |
| openSNP | rs2538991 |
| 23andMe | rs2538991 |
| SNPshot | rs2538991 |
| SNPdbe | rs2538991 |
| MSV3d | rs2538991 |
| GWAS Ctlg | rs2538991 |
| GMAF | 0.4403 |
| Max Magnitude | 0 |
Reported to be in very tight (r2>0.98) linkage with rs2710102, and thus potentially associated with autism.
[PMID 18987363
] Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10–5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117)
[PMID 18179893] Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
