rs17236239

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)		None
(A;G)		None
(G;G)	2	higher risk for speech development delay and/or impairment

Reference

GRCh38 38.1/141

Chromosome

7

Position

147885213

Gene

CNTNAP2

is a	snp
is	mentioned by
dbSNP	rs17236239
dbSNP (classic)	rs17236239
ClinGen	rs17236239
ebi	rs17236239
HLI	rs17236239
Exac	rs17236239
Gnomad	rs17236239
Varsome	rs17236239
LitVar	rs17236239
Map	rs17236239
PheGenI	rs17236239
Biobank	rs17236239
1000 genomes	rs17236239
hgdp	rs17236239
ensembl	rs17236239
geneview	rs17236239
scholar	rs17236239
google	rs17236239
pharmgkb	rs17236239
gwascentral	rs17236239
openSNP	rs17236239
23andMe	rs17236239
SNPshot	rs17236239
SNPdbe	rs17236239
MSV3d	rs17236239
GWAS Ctlg	rs17236239

GMAF

0.2388

Max Magnitude

2

?	(A;A) (A;G) (G;G)	28

[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)

23andMe blog

g2b2mh discusses this snp

nejm

OMIM	612514
Desc	SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4
Variant
Related	also

[PMID 21310003] CNTNAP2 variants affect early language development in the general population.

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