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rs35859249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) associated with familial obesity
(T;T) associated with familiar obesity
ReferenceGRCh38 38.1/141
Chromosome4
Position37902468
GeneTBC1D1
is asnp
is mentioned by
dbSNPrs35859249
ebirs35859249
HLIrs35859249
Exacrs35859249
Varsomers35859249
Maprs35859249
PheGenIrs35859249
hapmaprs35859249
1000 genomesrs35859249
hgdprs35859249
ensemblrs35859249
gopubmedrs35859249
geneviewrs35859249
scholarrs35859249
googlers35859249
pharmgkbrs35859249
gwascentralrs35859249
openSNPrs35859249
23andMers35859249
23andMe allrs35859249
SNP Nexus

SNPshotrs35859249
SNPdbers35859249
MSV3drs35859249
GWAS Ctlgrs35859249
GMAF0.08081
Max Magnitude0
Also known as the R125W variant, rs35859249 is a SNP in the TBC1D1 gene that has been associated with familiar - but not nonfamilial - obesity in several studies. The (C) allele encodes the (R), arginine, and the (T) allele encodes the (W), tryptophan.

In the first study to be published about this SNP, an analysis of primarily Utah families with obesity implicated the rs35859249(T) allele as a predisposing factor. This allele segregated with affected females in a majority of the chromosome 4p15–14-linked obesity-prone pedigrees, was enriched on disease-associated haplotypes (P=0.000007), accounted for the majority of the linkage evidence at 4p15–14, and appeared to be the causal variant. This study also implied a gene-gene interaction including another obesity predisposition locus further down the same chromosome at 4q34–35.[PMID 16893906]

Subsequently, a study of 9,714 French Caucasian individuals, combining family-based and general population studies, confirmed an association with familial obesity, yet did not find any association with body mass index or obesity in a large population-based cohort.[PMID 18325908]

OMIM608410
Desc
Variant
Relatedalso


GET Evidence
TBC1D1-R125W
aa_change Arg125Trp
aa_change_short R125W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.072876
summary