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rs4504469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 1.5x risk
(T;T) > 1.5x risk
ReferenceGRCh38 38.1/141
Chromosome6
Position24588656
GeneKIAA0319
is asnp
is mentioned by
dbSNPrs4504469
ebirs4504469
HLIrs4504469
Exacrs4504469
Varsomers4504469
Maprs4504469
PheGenIrs4504469
hapmaprs4504469
1000 genomesrs4504469
hgdprs4504469
ensemblrs4504469
gopubmedrs4504469
geneviewrs4504469
scholarrs4504469
googlers4504469
pharmgkbrs4504469
gwascentralrs4504469
openSNPrs4504469
23andMers4504469
23andMe allrs4504469
SNP Nexus

SNPshotrs4504469
SNPdbers4504469
MSV3drs4504469
GWAS Ctlgrs4504469
GMAF0.2332
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Rs4504469, a nonsynonymous SNP in exon 4 of the KIAA0319 gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the Caucasian populations studied is (T).

The odds ratio in a study of case:control study of ~400 Caucasians associated with rs4504469(T) is 1.51 (CI: 1.17–1.95, p = 0.002). [PMID 15717286OA-icon.png]

OMIM609269
DescKIAA0319 GENE; KIAA0319
Variant
Relatedalso
OMIM600202
Desc
Variant
Relatedalso


ClinVar
Risk rs4504469(T;T)
Alt rs4504469(T;T)
Reference rs4504469(C;C)
Significance Untested
Disease
Variation info
Gene KIAA0319
CLNDBN
Reversed 0
HGVS NC_000006.11:g.24588884C>T
CLNSRC
CLNACC



[PMID 15514892OA-icon.png] A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.

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

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

[PMID 19997522OA-icon.png] Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment.


GET Evidence
KIAA0319-A311T
aa_change Ala311Thr
aa_change_short A311T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.29578
summary



[PMID 23677054] Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population