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	rs6265 dbSNP Ensembl
Location	Chr11:27679916(Fwd)
Variant Alleles	C/T
Ancestral Allele	C
Functional Annotation	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000530786) NMD_transcript_variant(ENST00000530786) downstream_gene_variant(ENST00000532965) intron_variant(ENST00000530313) missense_variant(ENST00000525528; ENST00000439476; ENST00000395986; ENST00000395983; ENST00000356660; ENST00000395981; ENST00000533246; ENST00000438929; ENST00000533131; ENST00000530861; ENST00000525950; ENST00000532997; ENST00000395978; ENST00000418212; ENST00000314915; ENST00000395980; ENST00000528035; ENST00000420794) nc_transcript_variant(ENST00000499568; ENST00000502161; ENST00000500662; ENST00000499008; ENST00000530313; ENST00000530686; ENST00000501176; ENST00000584049) non_coding_exon_variant(ENST00000499568; ENST00000502161; ENST00000500662; ENST00000499008; ENST00000501176; ENST00000530686; ENST00000584049)
No. of Studies	12 (significant: 3; non-significant: 9; trend: 0)
Source	Literature-origin

SNP related studies (count: 12)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Forero DA, 2009	A/G			Not significant for the total samples. Not significant for the total samples.	Non-significant
Kent L, 2005	Val/Met		TDT P-value=0.02, OR=1.61 for parental alleles; TDT P-value=...... TDT P-value=0.02, OR=1.61 for parental alleles; TDT P-value=1.00, OR=1.00 for maternal alleles; TDT P-value=0.0005, OR=3.2 for paternal alleles More...	there was significant overtransmission of the Val allele for...... there was significant overtransmission of the Val allele for the whole sample and separate parental transmissions; maternal transmissions alone demonstrated no bias but there was highly significant overtransmission of the Val allele from fathers More...	Significant
Xu X, 2007(b)			UK sample: TDT P-value=0.666, HHRR P-value=0.668, TRANSMIT P...... UK sample: TDT P-value=0.666, HHRR P-value=0.668, TRANSMIT P-value=0.196; Taiwanese sample: TDT P-value=0.788, HHRR P-value=0.789, TRANSMIT P-value=0.835 More...	No significant preferential transmission of any allele was f...... No significant preferential transmission of any allele was found More...	Non-significant
Aureli A, 2010	G/A		Fisher's exact test P-value=0.0009, X²=11.54, OR=...... Fisher's exact test P-value=0.0009, X²=11.54, OR=3.44 for 196G allele, Pearson's chi-squared test P-value=0.003, X²=11.65, OR=7.04 for the G/A genotype More...	196G allele was statistically significant for the ADHD group...... 196G allele was statistically significant for the ADHD group and the G/A genotype was more frequent in both ADHD and ID patients compared to controls More...	Significant
Lee J, 2007	A/G	A	Allelic TDT P-value=0.627 for all transmissions, P-value=0.7...... Allelic TDT P-value=0.627 for all transmissions, P-value=0.777 for paternal transmissions, P-value=0.655 for maternal transmissions; quantitative analysis FBAT smallest P-value=0.372 for Teacher rated hyperactivity/impulsivity More...	No significant evidence of biased transmission or relationsh...... No significant evidence of biased transmission or relationship between this allele and the two ADHD symptom dimensions or short-term and working memory scores More...	Non-significant
Sanchez-Mora C, 2010	G>A		meta-analysis P-value=0.86, OR=0.99 for dominat model with f...... meta-analysis P-value=0.86, OR=0.99 for dominat model with fixed effects; fixed-effects model P-value=0.95, OR=0.99 for combined subtype, P-value=0.24, OR=0.86 for inattentive subtype, P-value=0.51, OR=0.93 for females, P-value=0.72, OR=1.03 for males More...	showed a lack of a statistically significant effect on adult...... showed a lack of a statistically significant effect on adulthood ADHD More...	Non-significant
Cho SC, 2010(a)			allelic P-value=0.525, X² (1df)=0.405, genotypic ...... allelic P-value=0.525, X² (1df)=0.405, genotypic P-value=0.735, X² (2df)=0.615 in boys; allelic P-value=0.347, X² (1df)=0.886, genotypic P-value=0.578, X² (2df)=1.234 in girls; TDT P-value=0.059, X² (df=1)=3.56 More...	a trend toward the preferential transmission of the A allele...... a trend toward the preferential transmission of the A allele in girls More...	Non-significant
Lanktree M, 2008	A(M):G(V)		X²=4.41, P-value=0.036 in the family-based sample...... X²=4.41, P-value=0.036 in the family-based sample; X²=2.31, P-value=0.13, OR=1.47 in the case-control sample; X²=6.71, P-value=0.0096, OR=1.65 in the combined samples More...	showed marginal significance in the family-based sample, and...... showed marginal significance in the family-based sample, and showed association in the combined samples More...	Significant
Schimmelmann BG, 2007	Val/Met		allelic TDT P-value=1 in parental, paternal and maternal tra...... allelic TDT P-value=1 in parental, paternal and maternal transmission; PO-LRT P-value=0.47 between the transmission difference of fathers and mothers More...	there was no significant over-transmission of the common Val...... there was no significant over-transmission of the common Val66 allele neither from all parents nor from fathers or mothers separately; paternal and maternal transmissions were not significantly different More...	Non-significant
Thakur G. A., 2012	A/G	A	FBAT: Z=-0.79, P=0.43, effect size=0.07 FBAT: Z=-0.79, P=0.43, effect size=0.07	No association with ADHD was found. No association with ADHD was found.	Non-significant
Gizer IR, 2009			Meta-analysis model: Fixed: OR=1.01, 95% CI=0.91-1.12, P-val...... Meta-analysis model: Fixed: OR=1.01, 95% CI=0.91-1.12, P-value=0.406; Q-statistic: P-value=0.504, I²=0 More...	no evidence to suggest an association between this polymorph...... no evidence to suggest an association between this polymorphisms and ADHD More...	Non-significant
Friedel S, 2005	G/A		genotypic Cochran-Armitage trend test P-value>0.2 genotypic Cochran-Armitage trend test P-value>0.2	no significant difference was observed no significant difference was observed	Non-significant

SNP related genes (count: 2)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
BDNF	brain-derived neurotrophic factor	11p14.1	14(8/6/0)

Genes from other sources (count: 1)

Approved Symbol	Approved Name	Location
BDNF-AS1	BDNF antisense RNA 1 (non-protein coding)	11p14.1

SNPs in LD with rs6265 (count: 25) View in gBrowse (chr11:27541623..27749725 )

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: 5)

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

rs10767664	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)	0.818[CEU]; 0.95[CHB]; 1.0[JPT]
rs2049045	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(1/0/0)	1.0[CEU]
rs11030104	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)	0.941[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[JPT]; 1.0[MEX]; 0.97[TSI]
rs7103411	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	2(2/0/0)	0.838[CEU]; 1.0[CHB]; 0.977[CHD]; 1.0[JPT]; 1.0[MEX]; 0.914[TSI]
rs1491850	intron_variant; nc_transcript_variant	1(1/0/0)	0.838[CHD]; 1.0[JPT]

LD-proxies (count: 20)

rs_ID	Functional Annotation	r²[population]
rs7116850	intron_variant; nc_transcript_variant; non_coding_exon_variant	1.0[MEX]
rs988748	intron_variant; nc_transcript_variant; upstream_gene_variant	0.836[CEU]; 0.952[CHB]; 1.0[JPT]
rs6484312	downstream_gene_variant; intron_variant; nc_transcript_variant	0.835[CEU]
rs10767665	intron_variant; nc_transcript_variant	0.803[CHD]
rs11030084	intron_variant; nc_transcript_variant	1.0[CEU]; 0.839[JPT]
rs7934165	intron_variant; nc_transcript_variant	0.826[CHD]
rs4923457	intron_variant; nc_transcript_variant	0.941[CEU]; 0.848[JPT]
rs7103873	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.817[CHB]
rs12419948	intron_variant; nc_transcript_variant	0.941[CEU]; 0.865[CHB]; 0.95[JPT]
rs6484320	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.837[CEU]; 1.0[CHB]; 1.0[JPT]
rs4923460	intron_variant; nc_transcript_variant; upstream_gene_variant	0.941[CEU]; 0.848[JPT]; 0.876[TSI]
rs4074134	intron_variant; nc_transcript_variant	0.941[CEU]; 0.848[JPT]; 1.0[MEX]; 0.909[TSI]
rs4923461	intron_variant; nc_transcript_variant; upstream_gene_variant	0.941[CEU]; 0.848[JPT]; 1.0[MEX]; 0.909[TSI]
rs2030323	intron_variant; nc_transcript_variant	0.838[CEU]; 0.952[CHB]; 1.0[JPT]
rs925947	intron_variant; nc_transcript_variant	0.94[CEU]; 0.95[CHB]; 0.949[JPT]
rs1488830	downstream_gene_variant; intron_variant; nc_transcript_variant	0.941[CEU]; 1.0[MEX]; 0.909[TSI]
rs879048	downstream_gene_variant; intron_variant; nc_transcript_variant	0.941[CEU]; 1.0[MEX]; 0.909[TSI]
rs10501087	intron_variant; nc_transcript_variant	0.941[CEU]; 0.865[CHB]; 0.93[CHD]; 0.95[JPT]; 1.0[MEX]; 0.97[TSI]
rs1304100	intron_variant; nc_transcript_variant	0.817[CEU]
rs16917237	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.938[CEU]; 1.0[CHB]; 0.977[CHD]; 1.0[JPT]; 1.0[MEX]; 0.97[TSI]