||higher risk of speech development delay and/or impairment
Reported to be in very tight (r2>0.98) linkage with rs2710102, and thus potentially associated with autism.
[PMID 18987363] 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 18179893] Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
[PMID 21310003] CNTNAP2 variants affect early language development in the general population.