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rs4307059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 Reduced Autism risk
(C;T) 2 1.19x risk of Autism
(T;T) 3 1.42x risk of Autism
ReferenceGRCh38 38.1/141
Chromosome5
Position25967594
is asnp
is mentioned by
dbSNPrs4307059
ebirs4307059
HLIrs4307059
Exacrs4307059
Varsomers4307059
Maprs4307059
PheGenIrs4307059
hapmaprs4307059
1000 genomesrs4307059
hgdprs4307059
ensemblrs4307059
gopubmedrs4307059
geneviewrs4307059
scholarrs4307059
googlers4307059
pharmgkbrs4307059
gwascentralrs4307059
openSNPrs4307059
23andMers4307059
23andMe allrs4307059
SNP Nexus

SNPshotrs4307059
SNPdbers4307059
MSV3drs4307059
GWAS Ctlgrs4307059
GMAF0.2365
Max Magnitude3
? (C;C) (C;T) (T;T) 28
23andMe blog rs4307059 — compared to two copies of a C, each copy of the more common T version increased the odds of autism by 1.19 times. [1]


[PMID 19404256OA-icon.png] Common genetic variants on 5p14.1 associate with autism spectrum disorders



[PMID 20634369OA-icon.png] Association Between a High-Risk Autism Locus on 5p14 and Social Communication Spectrum Phenotypes in the General Population

[PMID 22491950] A noncoding RNA antisense to moesin at 5p14.1 in autism

OMIM209850
Desc
Variant
Relatedalso
[PMID 19456320OA-icon.png] A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.


[PMID 19812673OA-icon.png] A genome-wide linkage and association scan reveals novel loci for autism.


GET Evidence
rs4307059
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.226562
summary



[PMID 22739633] The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families


[PMID 22846907] Analysis of four genes involved in the neurodevelopment shows association of rs4307059 polymorphism in the cadherin 9/10 region with completed suicide.