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rs12291063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common genotype
Make rs12291063(C;C)
Make rs12291063(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position27672554
GeneBDNF, BDNF-AS
is asnp
is mentioned by
dbSNPrs12291063
dbSNP (classic)rs12291063
ClinGenrs12291063
ebirs12291063
HLIrs12291063
Exacrs12291063
Gnomadrs12291063
Varsomers12291063
LitVarrs12291063
Maprs12291063
PheGenIrs12291063
Biobankrs12291063
1000 genomesrs12291063
hgdprs12291063
ensemblrs12291063
geneviewrs12291063
scholarrs12291063
googlers12291063
pharmgkbrs12291063
gwascentralrs12291063
openSNPrs12291063
23andMers12291063
SNPshotrs12291063
SNPdbers12291063
MSV3drs12291063
GWAS Ctlgrs12291063
Max Magnitude0
? (C;C) (C;T) (T;T) 28


10.1016/j.celrep.2015.09.065 Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. "We observed that the rs12291063 CC genotype was associated with lower expressions of BDNF transcripts ... and higher BMI and adiposity .... Our in vivo and clinical findings indicate that BDNF rs12291063, which had an MAF of ∼30% within our Hispanic and African-American cohorts, could play an important role in the pathogenesis of obesity in these populations. Mechanistically, our data suggest that diminished binding of hnRNPD0B at the rs12291063 locus in individuals with the CC genotype could cause decreased BDNF mRNA expression and protein concentrations within the hypothalamus, potentially leading to excessive energy intake and weight gain."