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rs2538991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) higher risk of speech development delay and/or impairment
(G;T) None
(T;T) None
ReferenceGRCh38 38.1/141
Chromosome7
Position147882527
GeneCNTNAP2
is asnp
is mentioned by
dbSNPrs2538991
ebirs2538991
HLIrs2538991
Exacrs2538991
Varsomers2538991
Maprs2538991
PheGenIrs2538991
hapmaprs2538991
1000 genomesrs2538991
hgdprs2538991
ensemblrs2538991
gopubmedrs2538991
geneviewrs2538991
scholarrs2538991
googlers2538991
pharmgkbrs2538991
gwascentralrs2538991
openSNPrs2538991
23andMers2538991
23andMe allrs2538991
SNP Nexus

SNPshotrs2538991
SNPdbers2538991
MSV3drs2538991
GWAS Ctlgrs2538991
GMAF0.4403
Max Magnitude
Reported to be in very tight (r2>0.98) linkage with rs2710102, and thus potentially associated with autism.

[PMID 18987363OA-icon.png] Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10–5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117)


[PMID 18179893OA-icon.png] Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.