ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

SNP Report

Basic Info

Name	rs1386493 dbSNP Ensembl
Location	Chr12:72355179(Fwd)
Variant Alleles	A/G
Ancestral Allele	G
Functional Annotation	NMD_transcript_variant; intron_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000546576) intron_variant(ENST00000546576; ENST00000333850)
No. of Studies	4 (significant: 2; non-significant: 2; trend: 0)
Source	Literature-origin

SNP related studies (count: 4)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Sheehan K, 2007		C	TDT test: P-value=0.775, OR=0.89 for full trios; P-value=0.8...... TDT test: P-value=0.775, OR=0.89 for full trios; P-value=0.815, OR=0.8 for paternal transmission; P-value=1, OR=1 for maternal transmission. More...	There is no significant difference in the transmission of al...... There is no significant difference in the transmission of alleles to ADHD cases. More...	Non-significant
Gizer IR, 2009			Meta-analysis model: Random: OR=1.04, 95% CI=0.77-1.40, P-va...... Meta-analysis model: Random: OR=1.04, 95% CI=0.77-1.40, P-value=0.4; Q-statistic: P-value=0.021, I²=69 More...	no evidence to suggest an association between this polymorph...... no evidence to suggest an association between this polymorphisms and ADHD More...	Non-significant
Sheehan K, 2005	C/T		allelic TDT P-value=0.095, X²=3.4, OR=1.4; TDT P-...... allelic TDT P-value=0.095, X²=3.4, OR=1.4; TDT P-value=0.04, X²=4.6, OR=1.9 of paternal origin; TDT P-value=0.8, X²=0.1, OR=1.1 of maternal origin More...	the trend towards association of allele C in the total sampl...... the trend towards association of allele C in the total sample was stronger for paternal transmissions More...	Significant
Brookes K, 2006	A/G		UNPHASED TDT P-value=0.00302; WHAP TDT P-value=0.010 UNPHASED TDT P-value=0.00302; WHAP TDT P-value=0.010	positive but with opposite allele, significant association w...... positive but with opposite allele, significant association was observed in both UNPHASED and WHAP analyses More...	Significant

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
TPH2	tryptophan hydroxylase 2	12q15	10(7/3/0)

Genes from other sources (count: 0)

SNPs in LD with rs1386493 (count: 26) View in gBrowse (chr12:72343287..72383614 )

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

Literature-origin SNPs (count: 7)

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

rs1386494	NMD_transcript_variant; intron_variant	1(0/1/0)	0.847[CEU]
rs1386488	NMD_transcript_variant; intron_variant	2(0/2/0)	0.813[ASW]; 1.0[CEU]; 0.842[CHB]; 0.846[CHD]; 1.0[GIH]; 1.0[JPT]; 0.835[LWK]; 0.845[MEX]; 0.885[MKK]; 0.97[TSI]; 0.829[YRI]
rs1386496	NMD_transcript_variant; intron_variant	2(0/2/0)	0.847[CEU]
rs1843809	NMD_transcript_variant; intron_variant	5(3/2/0)	0.847[CEU]
rs6582072	NMD_transcript_variant; intron_variant	1(0/1/0)	1.0[ASW]; 1.0[CEU]; 0.92[CHB]; 0.846[CHD]; 1.0[GIH]; 1.0[JPT]; 0.975[LWK]; 1.0[MKK]; 1.0[TSI]; 1.0[YRI]
rs1386492	downstream_gene_variant; intron_variant	1(0/1/0)	0.927[CEU]; 1.0[CHB]; 0.823[JPT]
rs6582081	intron_variant	1(1/0/0)	1.0[ASW]

LD-proxies (count: 19)

rs_ID	Functional Annotation	r²[population]
rs11179003	NMD_transcript_variant; intron_variant	1.0[JPT]
rs11179018	downstream_gene_variant; intron_variant	1.0[JPT]
rs11179017	downstream_gene_variant; intron_variant	1.0[JPT]
rs1386489	NMD_transcript_variant; intron_variant	0.847[CEU]
rs10879344	NMD_transcript_variant; intron_variant	1.0[JPT]
rs7300641	intron_variant	0.809[ASW]; 0.85[CEU]; 1.0[CHB]; 0.926[CHD]; 0.804[GIH]; 0.823[JPT]; 0.812[MEX]; 1.0[TSI]
rs12231731	intron_variant	1.0[JPT]
rs10784942	NMD_transcript_variant; intron_variant	0.847[CEU]; 0.813[YRI]
rs1843810	intron_variant	0.85[CEU]; 1.0[CHB]; 0.823[JPT]
rs11179015	downstream_gene_variant; intron_variant	1.0[JPT]
rs11179032	intron_variant	1.0[JPT]
rs11179022	intron_variant	1.0[JPT]
rs7968346	NMD_transcript_variant; intron_variant	0.847[CEU]
rs7978482	intron_variant	0.85[CEU]; 1.0[CHB]; 0.962[CHD]; 0.804[GIH]; 0.823[JPT]; 0.82[MEX]; 1.0[TSI]
rs10784944	downstream_gene_variant; intron_variant	0.847[CEU]
rs11179004	NMD_transcript_variant; intron_variant	1.0[JPT]
rs7299582	3_prime_UTR_variant; NMD_transcript_variant; intron_variant	0.847[CEU]
rs4760749	NMD_transcript_variant; intron_variant	0.847[CEU]
rs12231408	intron_variant	1.0[JPT]