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	rs1053651 dbSNP Ensembl
Location	Chr17:37822311(Fwd)
Variant Alleles	A/C
Ancestral Allele	C
Functional Annotation	downstream_gene_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000580611; ENST00000583884; ENST00000578577; ENST00000583639; ENST00000578384; ENST00000584850; ENST00000471896; ENST00000488876; ENST00000544210; ENST00000585269; ENST00000394250; ENST00000481171; ENST00000336308; ENST00000578686) synonymous_variant(ENST00000309889; ENST00000578283; LRG_210_t1) upstream_gene_variant(ENST00000394246; ENST00000581428; ENST00000269582)
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Hawi, Z., 2012	C:A	C	P-value=0.4083, X²=0.68, OR=1.13, 95% CI=0.84-1.5...... P-value=0.4083, X²=0.68, OR=1.13, 95% CI=0.84-1.52 More...	The marker did not show significant association with ADHD. The marker did not show significant association with ADHD.	Non-significant

SNP related genes (count: 3)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
PNMT	phenylethanolamine N-methyltransferase	17q	3(2/1/0)

Genes from other sources (count: 2)

Approved Symbol	Approved Name	Location
STARD3	StAR-related lipid transfer (START) domain containing 3	17q11-q12
TCAP	titin-cap (telethonin)	17q12

SNPs in LD with rs1053651 (count: 67) View in gBrowse (chr17:37625912..37843859 )

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: 4)

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

rs2952151	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	1(0/1/0)	0.908[CHB]; 0.875[CHD]; 0.905[JPT]; 0.895[TSI]
rs879606	downstream_gene_variant; upstream_gene_variant	1(0/1/0)	0.868[CHB]; 0.832[CHD]; 0.822[JPT]
rs3764352	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)	0.868[CHB]; 0.861[CHD]; 0.887[GIH]; 0.822[JPT]
rs907094	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)	0.868[CHB]; 0.861[CHD]; 0.887[GIH]; 0.822[JPT]

LD-proxies (count: 63)

rs_ID	Functional Annotation	r²[population]
rs9972882	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.946[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[JPT]; 0.914[MEX]; 0.922[TSI]
rs1565922	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.901[JPT]; 0.869[TSI]
rs12150603	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.824[GIH]; 0.905[JPT]; 0.842[TSI]
rs7503705	intron_variant	0.892[CEU]
rs11654018	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	0.892[CEU]
rs9675194	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.802[CHD]; 0.846[GIH]; 0.905[JPT]; 0.844[TSI]
rs12453682	upstream_gene_variant	0.848[CEU]; 0.865[GIH]; 0.924[TSI]
rs903501	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.864[CHB]; 0.827[CHD]; 0.905[JPT]
rs2271308	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 0.954[CHB]; 0.975[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 1.0[MKK]; 0.974[TSI]; 1.0[YRI]
rs1877031	NMD_transcript_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.811[CEU]; 1.0[CHB]; 1.0[CHD]; 0.945[GIH]; 1.0[JPT]; 0.876[MEX]; 0.924[TSI]
rs11078906	intron_variant	0.833[CEU]
rs907089	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.803[GIH]; 0.905[JPT]; 0.844[TSI]
rs1874228	upstream_gene_variant	0.945[CEU]; 0.828[CHB]; 0.835[CHD]; 0.916[GIH]; 0.822[JPT]
rs11078913	intron_variant	0.947[CEU]
rs9915323	upstream_gene_variant	1.0[CEU]
rs2247862	downstream_gene_variant; intron_variant; nc_transcript_variant	0.908[CHB]; 0.874[CHD]; 0.905[JPT]; 0.895[TSI]
rs7225096	intron_variant	0.839[CEU]
rs12450559	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.892[CEU]
rs11078919	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.824[GIH]; 0.905[JPT]; 0.829[MEX]; 0.844[TSI]
rs2941503	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.908[CHB]; 0.875[CHD]; 0.903[JPT]; 0.893[TSI]
rs4795384	intron_variant; nc_transcript_variant	0.892[CEU]
rs12940986	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.824[GIH]; 0.905[JPT]; 0.844[TSI]
rs11078915	intron_variant; nc_transcript_variant	0.888[CEU]
rs4795388	upstream_gene_variant	0.946[CEU]; 0.828[CHB]
rs2934953	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.815[CHB]; 0.894[JPT]
rs6503518	intron_variant	0.839[CEU]
rs2941506	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.848[CHB]; 0.837[JPT]
rs11870631	intron_variant; nc_transcript_variant	0.838[CEU]
rs931992	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	0.811[CEU]; 0.954[CHB]; 0.975[CHD]; 0.945[GIH]; 1.0[JPT]; 0.876[MEX]; 0.924[TSI]
rs2271309	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.868[CHB]; 0.822[JPT]
rs1476278	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.824[GIH]; 0.905[JPT]; 0.844[TSI]
rs9303274	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.827[CHD]; 0.824[GIH]; 0.905[JPT]; 0.844[TSI]
rs8065963	intron_variant; upstream_gene_variant	0.892[CEU]
rs903502	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.908[CHB]; 0.851[CHD]; 0.847[GIH]; 0.905[JPT]; 0.832[MEX]; 0.948[TSI]
rs2517958	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.857[CHB]; 0.898[JPT]
rs2313171	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.895[JPT]
rs4239222	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.892[CEU]
rs2018026	intron_variant	0.839[CEU]
rs11078907	intron_variant	0.833[CEU]
rs11078901	intron_variant; upstream_gene_variant	0.839[CEU]
rs2517956	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.858[JPT]
rs2941504	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	0.908[CHB]; 0.905[JPT]; 0.894[TSI]
rs2517954	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.858[JPT]
rs12936996	intron_variant	0.838[CEU]
rs12948906	intron_variant; nc_transcript_variant	0.839[CEU]
rs11658678	intron_variant; upstream_gene_variant	0.947[CEU]
rs11869286	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.811[CEU]; 1.0[CHB]; 1.0[CHD]; 0.945[GIH]; 1.0[JPT]; 0.876[MEX]; 0.924[TSI]
rs11078912	intron_variant	0.886[CEU]
rs2941505	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.905[JPT]
rs907087	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.908[CHB]; 0.875[CHD]; 0.905[JPT]; 0.895[TSI]
rs8078228	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.854[CHB]; 0.899[JPT]
rs12150298	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.864[CHB]; 0.803[CHD]; 0.824[GIH]; 0.905[JPT]; 0.844[TSI]
rs10852934	downstream_gene_variant; upstream_gene_variant	0.868[CHB]; 0.835[CHD]; 0.822[JPT]
rs881844	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.811[CEU]; 0.954[CHB]; 1.0[JPT]
rs4794814	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.892[CEU]
rs7503069	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.892[CEU]
rs2517957	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.901[CHB]; 0.946[JPT]
rs1619021		0.892[CEU]
rs2517955	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.803[GIH]; 0.858[JPT]; 0.819[TSI]
rs14050	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.908[CHB]; 0.875[CHD]; 0.905[JPT]; 0.895[TSI]
rs11657899	intron_variant; upstream_gene_variant	0.839[CEU]
rs2303316	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.892[CEU]
rs7216086	downstream_gene_variant; intron_variant; nc_transcript_variant	0.891[CEU]