ADHDgene Database

SNP Report

Basic Info

Name	rs2293945 dbSNP Ensembl
Location	ChrX:49047619(Fwd)
Variant Alleles	T/C
Ancestral Allele	C
Functional Annotation	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000479808) NMD_transcript_variant(ENST00000376303) downstream_gene_variant(ENST00000466635; ENST00000469389) intron_variant(ENST00000376303; ENST00000472598; ENST00000263233; ENST00000538567) upstream_gene_variant(ENST00000417014; ENST00000376317; ENST00000538114; ENST00000376310)
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Brookes KJ, 2005 (b)			MRM P-value=0.03, Case-control P-value=0.09, TDT P-value=0.0...... MRM P-value=0.03, Case-control P-value=0.09, TDT P-value=0.005 More...	remained significant following case-control and TDT analysis...... remained significant following case-control and TDT analysis of the individually genotyped data More...	Significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
SYP	synaptophysin	Xp11.23-p11.22	3(3/0/0)

Approved Symbol	Approved Name	Location
PRICKLE3	prickle homolog 3 (Drosophila)	Xp11.23

SNPs in LD with rs2293945 (count: 15) View in gBrowse (chrX:49047325..49100691 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²>=0.8.

rs_ID	Functional Annotation	#studies(significant/non-significant/trend)	r²[population]

rs5906754	downstream_gene_variant; upstream_gene_variant	2(2/0/0)	1.0[ASW]; 1.0[CHB]; 0.928[CHD]; 1.0[JPT]; 0.831[LWK]; 0.8[MKK]; 1.0[YRI]

rs_ID	Functional Annotation	r²[population]
rs5905722	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	0.945[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs5952519	intron_variant; nc_transcript_variant; upstream_gene_variant	0.877[CHB]; 0.928[JPT]
rs2071316	intron_variant; upstream_gene_variant	0.877[CHB]; 0.893[CHD]; 0.928[JPT]
rs2075866	synonymous_variant; upstream_gene_variant	0.868[ASW]; 0.877[CHB]; 0.893[CHD]; 0.857[JPT]
rs926175	downstream_gene_variant; intron_variant	0.877[CHB]; 0.858[CHD]; 0.857[JPT]
rs2235127	synonymous_variant; upstream_gene_variant	0.877[CHB]; 0.857[JPT]
rs2294018	intron_variant; nc_transcript_variant	0.814[CHB]; 0.928[JPT]
rs2869212	downstream_gene_variant; intron_variant	0.877[CHB]; 0.858[CHD]; 0.857[JPT]
rs6520412	intron_variant; nc_transcript_variant	0.877[CHB]; 0.858[CHD]; 0.928[JPT]
rs3817678	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[ASW]; 0.945[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 1.0[MKK]; 1.0[TSI]; 1.0[YRI]
rs5953280	downstream_gene_variant; intron_variant; upstream_gene_variant	0.806[JPT]
rs2283733	intron_variant	0.877[CHB]; 0.893[CHD]; 0.857[JPT]
rs2071317	intron_variant; upstream_gene_variant	0.877[CHB]; 0.893[CHD]; 0.857[JPT]
rs5905724	downstream_gene_variant; intron_variant; upstream_gene_variant	0.877[CHB]; 0.858[CHD]; 0.857[JPT]