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rs4576240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs4576240(G;T)
Make rs4576240(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position24596250
GeneKIAA0319
is asnp
is mentioned by
dbSNPrs4576240
ebirs4576240
HLIrs4576240
Exacrs4576240
Varsomers4576240
Maprs4576240
PheGenIrs4576240
hapmaprs4576240
1000 genomesrs4576240
hgdprs4576240
ensemblrs4576240
gopubmedrs4576240
geneviewrs4576240
scholarrs4576240
googlers4576240
pharmgkbrs4576240
gwascentralrs4576240
openSNPrs4576240
23andMers4576240
23andMe allrs4576240
SNP Nexus

SNPshotrs4576240
SNPdbers4576240
MSV3drs4576240
GWAS Ctlgrs4576240
GMAF0.05831
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene KIAA0319
allele G
frequency 0.933
sift TOLERATED
HuRef 1103652809084
Disease Association Defects in KIAA0319 may be a cause of susceptibility to dyslexia (DYX2) (MIM:600202); also called reading disability. DYX2 is a relatively common, complex cognitive disorder that affects 5 per cent to 10 per cent of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational, and intellectual opportunities and in the absence of sensory or neurological disability.



[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 15717286OA-icon.png] Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.


GET Evidence
KIAA0319-T97P
aa_change Thr97Pro
aa_change_short T97P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary