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	rs140701 dbSNP Ensembl
Location	chr17:28538532(Fwd)
Variant Alleles	C/T
Ancestral Allele	C
Functional Annotation	intron_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000261707; ENST00000394821; ENST00000401766) upstream_gene_variant(ENST00000579221)
No. of Studies	3 (significant: 1; non-significant: 2; trend: 0)
Source	Literature-origin

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result of Statistical Analysis
Brookes K, 2006	A/G	UNPHASED TDT P-value=0.315; WHAP TDT P-value=0.349 UNPHASED TDT P-value=0.315; WHAP TDT P-value=0.349	no significant association was observed no significant association was observed	Non-significant
Ilott NE, 2010		QTDT AT P-value=0.09, X²=2.96, df=1, QTDT AW P-va...... QTDT AT P-value=0.09, X²=2.96, df=1, QTDT AW P-value=0.08, X²=3.03, df=1 at age 2; QTDT AT P-value=0.38, X²=0, df=1, QTDT AW P-value=0.07, X²=3.24, df=1 at age 3 More...	modest, nominally significant associations in the AW test at...... modest, nominally significant associations in the AW test at age 3 More...	Non-significant
Nyman ES, 2007		Logistic regression for single markers: adjusted for sex: P-...... Logistic regression for single markers: adjusted for sex: P-value=0.0393, OR=0.51, 95%CI=0.27-0.97 for 12vs.22; Males: P-value=0.0483, OR=0.53, 95%CI=0.28-1.00 for 12vs.11 More...	nominally associated, but the results were considered inconc...... nominally associated, but the results were considered inconclusive because the effect was seen only for heterozygotes, and no risk (or protective) allele could be identified. More...	Significant

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
SLC6A4	solute carrier family 6 (neurotransmitter transporter), member 4	17q11.2	26(13/13/0)

Genes from other sources (count: 0)

SNPs in LD with rs140701 (count: 51) View in gBrowse (chr17:28344276..28550732 )

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: 0)

LD-proxies (count: 51)

rs_ID	Functional Annotation	r²[population]
rs11080114	intron_variant	0.825[TSI]
rs9906340	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.825[TSI]
rs4343336	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.869[TSI]; 1.0[CHD]; 0.92[JPT]
rs6505158	downstream_gene_variant; intron_variant	0.825[TSI]
rs2054847	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.961[CEU]; 0.869[CHB]; 1.0[JPT]
rs1906451	downstream_gene_variant	0.866[TSI]; 1.0[CHD]; 0.92[JPT]
rs4429345	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.869[TSI]; 1.0[CHD]; 0.92[JPT]
rs4581755	intron_variant; nc_transcript_variant	0.845[TSI]; 0.956[CHD]
rs4328498	intron_variant; NMD_transcript_variant	0.805[TSI]
rs8080343	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.851[TSI]; 1.0[CHD]; 0.842[JPT]
rs9898353	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs12450441	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.903[JPT]
rs4470197	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs12602065	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs7211246	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs8074028	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.852[TSI]; 1.0[CHD]; 0.92[JPT]
rs8065261	intron_variant; nc_transcript_variant	0.845[TSI]; 0.956[CHD]
rs8065059	downstream_gene_variant; intron_variant; nc_transcript_variant	0.845[TSI]; 0.956[CHD]
rs3794808	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.96[CEU]; 0.978[TSI]; 0.806[CHB]; 1.0[CHD]; 1.0[JPT]; 0.955[GIH]; 0.954[MEX]
rs4356528	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.869[TSI]; 1.0[CHD]; 0.92[JPT]
rs9303628	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.956[CHD]; 0.92[JPT]
rs7207021	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.805[TSI]
rs8082175	intron_variant; nc_transcript_variant	0.845[TSI]; 0.956[CHD]
rs9890886	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.805[TSI]
rs7224199	3_prime_UTR_variant; downstream_gene_variant	0.852[TSI]; 1.0[CHD]; 0.92[JPT]
rs7213076	downstream_gene_variant; intron_variant; nc_transcript_variant	0.956[CHD]
rs6505162	5_prime_UTR_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.956[CHD]
rs4427857	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.92[JPT]
rs8071742	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.825[TSI]
rs9890205	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	0.805[TSI]
rs4493117	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs7221743	intron_variant; synonymous_variant	0.825[TSI]
rs7222685	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs4795529	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.956[CHD]
rs11080118	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	1.0[CHD]; 0.92[JPT]
rs4239227	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.825[TSI]
rs9912741	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.805[TSI]
rs4350617	downstream_gene_variant; intron_variant; nc_transcript_variant	0.845[TSI]; 0.956[CHD]
rs2054846	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	0.869[TSI]; 1.0[CHD]; 0.92[JPT]
rs7216631	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.809[JPT]
rs9896012	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CHD]; 0.92[JPT]
rs9908901	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	0.92[JPT]
rs9902453	intron_variant; NMD_transcript_variant	0.825[TSI]
rs17825877	downstream_gene_variant	0.848[TSI]; 1.0[CHD]; 0.92[JPT]
rs12449783	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	1.0[JPT]
rs4533341	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.844[TSI]; 1.0[CHD]; 0.92[JPT]
rs9896062	intron_variant; NMD_transcript_variant; upstream_gene_variant	0.825[TSI]
rs4075623	intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.825[TSI]
rs7221154	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.852[TSI]; 1.0[CHD]; 0.91[JPT]
rs2020939	intron_variant	0.961[CEU]; 0.893[TSI]; 0.848[GIH]; 1.0[MEX]
rs9902340	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	1.0[CHD]; 0.92[JPT]