rs9296249
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | <0.62x risk for restless legs | |
| (C;T) | 0.62x risk for restless legs | |
| (T;T) | 0 | common |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 38398065 |
| Gene | BTBD9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9296249 |
| dbSNP (classic) | rs9296249 |
| ClinGen | rs9296249 |
| ebi | rs9296249 |
| HLI | rs9296249 |
| Exac | rs9296249 |
| Gnomad | rs9296249 |
| Varsome | rs9296249 |
| LitVar | rs9296249 |
| Map | rs9296249 |
| PheGenI | rs9296249 |
| Biobank | rs9296249 |
| 1000 genomes | rs9296249 |
| hgdp | rs9296249 |
| ensembl | rs9296249 |
| geneview | rs9296249 |
| scholar | rs9296249 |
| rs9296249 | |
| pharmgkb | rs9296249 |
| gwascentral | rs9296249 |
| openSNP | rs9296249 |
| 23andMe | rs9296249 |
| SNPshot | rs9296249 |
| SNPdbe | rs9296249 |
| MSV3d | rs9296249 |
| GWAS Ctlg | rs9296249 |
| GMAF | 0.3815 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs9296249, a SNP located in the BTBD9 gene region, has been linked to a lower frequency of restless legs syndrome, a common sleep disorder, with an overall odds ratio of 0.62 (CI: 0.52-0.75) for the (C) minor allele. [PMID 17637780]
| GWAS | |
|---|---|
| SNP | rs9296249 |
| PubMedID | [PMID 17637780] |
| Condition | Restless legs syndrome |
| Gene | BTBD9 |
| Risk Allele | T |
| pValue | 4.00E-018 |
| OR | 1.67 |
| 95% CI | 1.49-1.89 |
[PMID 19223043] Exploring the genetic link between RLS and ADHD
[PMID 19279021
] Replication of restless legs syndrome loci in three European populations.
[PMID 22914617] Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome.
[PMID 22486183] A genetic risk factor for low serum ferritin levels in Danish blood donors.
Homozygosity for the T-allele of BTBD9 rs9296249 was associated with lower serum ferritin. The odds ratio for low serum ferritin was 1.35 (95% confidence interval, 1.02-1.77; p=0.03) when comparing donors with the TT genotype with donors with the CT genotype.
[PMID 28329290] Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population.
