rs759178

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)		higher risk of speech development delay and/or impairment
(G;T)		None
(T;T)		None

Reference

GRCh38 38.1/141

Chromosome

7

Position

147878020

Gene

CNTNAP2

is a	snp
is	mentioned by
dbSNP	rs759178
dbSNP (classic)	rs759178
ClinGen	rs759178
ebi	rs759178
HLI	rs759178
Exac	rs759178
Gnomad	rs759178
Varsome	rs759178
LitVar	rs759178
Map	rs759178
PheGenI	rs759178
Biobank	rs759178
1000 genomes	rs759178
hgdp	rs759178
ensembl	rs759178
geneview	rs759178
scholar	rs759178
google	rs759178
pharmgkb	rs759178
gwascentral	rs759178
openSNP	rs759178
23andMe	rs759178
SNPshot	rs759178
SNPdbe	rs759178
MSV3d	rs759178
GWAS Ctlg	rs759178

GMAF

0.399

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

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.