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	rs7928249 dbSNP Ensembl
Location	Chr11:71161063(Fwd)
Variant Alleles	A/G
Ancestral Allele	G
Functional Annotation	intron_variant; nc_transcript_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000529369; ENST00000527452) nc_transcript_variant(ENST00000529369) upstream_gene_variant(ENST00000528509; ENST00000319023; ENST00000534634; ENST00000529120; ENST00000524694; ENST00000525245; ENST00000525346; ENST00000355527; ENST00000531364; ENST00000533612; ENST00000526780; ENST00000527316; ENST00000524949; ENST00000527538; ENST00000524709; ENST00000533769; ENST00000407721; ENST00000529990)
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	A:G		P-value=2.05E-05 P-value=2.05E-05	one of top 50 hits from the Genome-Wide Attention-Deficit/Hy...... one of top 50 hits from the Genome-Wide Attention-Deficit/Hyperactivity Disorder (ADHD) meta-analysis More...	Trend

SNP related genes (count: 2)

Literature-origin genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
DHCR7	7-dehydrocholesterol reductase	11q13.4	1(0/0/1)
NADSYN1	NAD synthetase 1	11q13.4	1(0/0/1)

Genes from other sources (count: 0)

SNPs in LD with rs7928249 (count: 45) View in gBrowse (chr11:71119018..71221248 )

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]

rs1630498	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)	0.817[TSI]
rs736894	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)	0.817[TSI]
rs1790324	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)	0.817[TSI]
rs12800438	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)	0.888[ASW]; 1.0[CEU]; 0.955[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.832[LWK]; 0.836[MEX]; 0.864[MKK]; 0.969[TSI]; 0.856[YRI]
rs3750997	5_prime_UTR_variant; intron_variant; upstream_gene_variant	1(0/0/1)	0.95[CEU]; 0.959[GIH]; 0.803[MEX]; 0.937[TSI]
rs12422045	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)	0.95[CEU]; 0.911[CHB]; 0.976[CHD]; 0.959[GIH]; 1.0[JPT]; 0.913[MEX]; 0.906[TSI]
rs11603330	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)	0.95[CEU]; 0.911[CHB]; 0.976[CHD]; 0.959[GIH]; 1.0[JPT]; 0.913[MEX]; 0.906[TSI]

LD-proxies (count: 38)

rs_ID	Functional Annotation	r²[population]
rs2282620	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]
rs11233747	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.949[CHB]; 1.0[JPT]
rs2040323	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.953[CHB]; 1.0[JPT]
rs4944044	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.864[CHB]
rs2276362	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.888[ASW]; 1.0[CEU]; 0.955[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.811[LWK]; 0.831[MEX]; 0.845[MKK]; 0.969[TSI]
rs11600569	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.951[CHB]; 1.0[JPT]
rs4945008	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	0.95[CEU]; 0.953[CHB]; 1.0[JPT]
rs7935125	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.947[CHB]; 1.0[JPT]
rs4944958	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs1044482	intron_variant; missense_variant; splice_region_variant; synonymous_variant; upstream_gene_variant	0.946[CEU]; 0.907[CHB]; 0.937[JPT]
rs12791871	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.969[TSI]
rs12419279	downstream_gene_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 0.821[JPT]
rs12808368	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1.0[CEU]; 0.953[CHB]; 1.0[JPT]
rs1790345	3_prime_UTR_variant; downstream_gene_variant; intron_variant	0.817[TSI]
rs12797951	downstream_gene_variant; intron_variant	0.95[CEU]; 1.0[CHB]; 0.976[CHD]; 1.0[GIH]; 0.892[JPT]; 0.913[MEX]; 0.906[TSI]
rs4944959	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 0.923[GIH]; 1.0[JPT]; 0.969[TSI]
rs1792226	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.847[TSI]
rs1792229	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.846[TSI]
rs4423214	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.95[CHB]; 1.0[JPT]; 0.845[YRI]
rs3794060	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.955[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.969[TSI]
rs12806918	intron_variant; nc_transcript_variant; upstream_gene_variant	0.818[CHB]; 0.858[CHD]; 0.879[GIH]
rs12785878	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.955[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.969[TSI]
rs2002064	downstream_gene_variant; intron_variant; upstream_gene_variant	0.847[TSI]
rs2276360	NMD_transcript_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 0.953[CHD]; 1.0[GIH]; 1.0[JPT]; 0.972[LWK]; 0.836[MEX]; 0.902[MKK]; 0.969[TSI]; 0.926[YRI]
rs11606033	downstream_gene_variant; intron_variant; upstream_gene_variant	0.95[CEU]; 0.911[CHB]; 1.0[JPT]
rs7944926	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.968[TSI]
rs2282621	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.826[CHD]; 1.0[GIH]; 1.0[TSI]
rs12790558	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1.0[CEU]; 0.951[CHB]; 1.0[JPT]
rs1792282	downstream_gene_variant; upstream_gene_variant	0.817[TSI]
rs1792284	downstream_gene_variant; upstream_gene_variant	0.817[TSI]
rs12419334	3_prime_UTR_variant	0.947[CEU]; 1.0[CHB]; 0.975[CHD]; 1.0[GIH]; 0.892[JPT]; 0.913[MEX]; 0.902[TSI]
rs1629220	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.847[TSI]
rs4944957	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.838[ASW]; 1.0[CEU]; 1.0[CHB]; 0.975[CHD]; 1.0[GIH]; 1.0[JPT]; 0.836[MEX]; 1.0[TSI]
rs4944062	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.95[CHB]; 1.0[JPT]
rs2852853	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.942[CEU]; 0.953[CHB]; 0.892[JPT]
rs12793607	intron_variant; nc_transcript_variant	0.818[CHB]; 0.858[CHD]; 0.879[GIH]
rs3763856	intron_variant; nc_transcript_variant; non_coding_exon_variant	0.818[CHB]; 0.858[CHD]; 0.879[GIH]
rs7938885	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1.0[CEU]; 0.955[CHB]; 1.0[JPT]; 0.883[YRI]