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rs2143340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.3 > 2x risk of dyslexia and poor reading performance
(C;T) 2 increased risk of dyslexia and poor reading performance
(T;T) 0 common
ReferenceGRCh38 38.1/141
Chromosome6
Position24658843
GeneTDP2
is asnp
is mentioned by
dbSNPrs2143340
ebirs2143340
HLIrs2143340
Exacrs2143340
Varsomers2143340
Maprs2143340
PheGenIrs2143340
hapmaprs2143340
1000 genomesrs2143340
hgdprs2143340
ensemblrs2143340
gopubmedrs2143340
geneviewrs2143340
scholarrs2143340
googlers2143340
pharmgkbrs2143340
gwascentralrs2143340
openSNPrs2143340
23andMers2143340
23andMe allrs2143340
SNP Nexus

SNPshotrs2143340
SNPdbers2143340
MSV3drs2143340
GWAS Ctlgrs2143340
GMAF0.1501
Max Magnitude2.3
? (C;C) (C;T) (T;T) 28
[PMID 18829873] genetic risk for poor reading performance.

Rs2143340, a SNP in the TTRAP gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the US/UK Caucasian populations studied is (C), and it is indicative of a risk haplotype found in ~18% of the general population but up to ~28% of severely dyslexic individuals. [PMID 15514892OA-icon.png]

It is not thought that rs2143340 is a functional SNP; instead, it marks the haplotype known as rs4504469-rs2038137-rs2143340 "1-1-2" since the other two SNPs are the common forms whereas the significant form for rs2143340 is the rare form. The functional effect of this haplotype appears to be on the KIAA0319 gene, in that KIAA0319 gene activity associated with the 1-1-2 risk haplotype is 40% lower than for other haplotypes, and other genes aren't noticeably affected. [PMID 16600991] [PMID 18829873]

OMIM609269
DescKIAA0319 GENE; KIAA0319
Variant
Relatedalso
OMIM600202
Desc
Variant
Relatedalso
[PMID 15717286OA-icon.png] Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.


[PMID 16385449OA-icon.png] Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.


[PMID 17597587] A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability.


[PMID 19325871OA-icon.png] A common variant associated with dyslexia reduces expression of the KIAA0319 gene.