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rs9296249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) <0.62x risk for restless legs
(C;T) 0.62x risk for restless legs
(T;T) 0 common
ReferenceGRCh38 38.1/141
Chromosome6
Position38398065
GeneBTBD9
is asnp
is mentioned by
dbSNPrs9296249
dbSNP (classic)rs9296249
ClinGenrs9296249
ebirs9296249
HLIrs9296249
Exacrs9296249
Gnomadrs9296249
Varsomers9296249
LitVarrs9296249
Maprs9296249
PheGenIrs9296249
Biobankrs9296249
1000 genomesrs9296249
hgdprs9296249
ensemblrs9296249
geneviewrs9296249
scholarrs9296249
googlers9296249
pharmgkbrs9296249
gwascentralrs9296249
openSNPrs9296249
23andMers9296249
SNPshotrs9296249
SNPdbers9296249
MSV3drs9296249
GWAS Ctlgrs9296249
GMAF0.3815
Max Magnitude0
? (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


OMIM611185
DescRESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6
Variant
Relatedalso

[PMID 19223043] Exploring the genetic link between RLS and ADHD




[PMID 19279021OA-icon.png] 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.