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rs17236239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) None
(A;G) None
(G;G) 2 higher risk for speech development delay and/or impairment
ReferenceGRCh38 38.1/141
Chromosome7
Position147885213
GeneCNTNAP2
is asnp
is mentioned by
dbSNPrs17236239
ebirs17236239
HLIrs17236239
Exacrs17236239
Varsomers17236239
Maprs17236239
PheGenIrs17236239
hapmaprs17236239
1000 genomesrs17236239
hgdprs17236239
ensemblrs17236239
gopubmedrs17236239
geneviewrs17236239
scholarrs17236239
googlers17236239
pharmgkbrs17236239
gwascentralrs17236239
openSNPrs17236239
23andMers17236239
23andMe allrs17236239
SNP Nexus

SNPshotrs17236239
SNPdbers17236239
MSV3drs17236239
GWAS Ctlgrs17236239
GMAF0.2388
Max Magnitude2
? (A;A) (A;G) (G;G) 28
[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)

23andMe blog

g2b2mh discusses this snp

nejm

OMIM612514
DescSPECIFIC LANGUAGE IMPAIRMENT 4; SLI4
Variant
Relatedalso
[PMID 21310003OA-icon.png] CNTNAP2 variants affect early language development in the general population.


GET Evidence
rs17236239
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.21875
summary



[PMID 23123147] CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.