Rs10513025

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is asnp
is mentioned by
dbSNPrs10513025
hapmaprs10513025
hgdprs10513025
ensemblrs10513025
gopubmedrs10513025
scholarrs10513025
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pharmgkbrs10513025
hgvbaseg2prs10513025
medrefsnprs10513025
23andMers10513025
SNP Nexus

Chromosome5
Orientationplus
Position9676621
GenotypeEffect
rs10513025(C;C)>0.55x reduced risk for autism
rs10513025(C;T)0.55x reduced risk for autism
rs10513025(T;T)normal


Genotypes Magnitude Summary
Rs10513025(C;C) >0.55x reduced risk for autism
Rs10513025(C;T) 0.55x reduced risk for autism
Rs10513025(T;T) normal
rs10513025 is a SNP located in chromosomal region 5p15, in between the SEMA5A and TAS2R1 genes.

Based on a linkage and association mapping study of 1,031 multiplex autism families, rs10513025 was found to be associated with autism, and the expression of SEMA5A was seen to be reduced in brains from autistic patients. Although this finding was replicated, the authors caution that this SNP explains a very small fraction of the heritability of a complex disorder like autism, presumably due to their finding that the most common allele (present at a frequency of ~96%) is the allele associated with higher risk. The much rarer allele, rs10513025(C), is associated with a 0.55x reduced risk for autism (p=9.6x10e-6).10.1038/nature08490

? (C;C) (C;T) (T;T)
GWAS snp
PMID [PMID 19812673]
Trait Autism
Title A genome-wide linkage and association scan reveals novel loci for autism
Risk Allele
P-val 3E-7
Odds Ratio 1.81 [NR]