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	rs469727 dbSNP Ensembl
Location	Chr5:112242968(Fwd)
Variant Alleles	C/T
Ancestral Allele	C
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000511865) intron_variant(ENST00000379638; ENST00000497856; ENST00000511865; ENST00000513339; ENST00000261482; ENST00000504247; ENST00000545426; ENST00000474542) nc_transcript_variant(ENST00000497856; ENST00000474542) upstream_gene_variant(ENST00000579867)
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
Lesch KP, 2008			ANOVA P-value=7.54E-06, Mean of ranks=55 ANOVA P-value=7.54E-06, Mean of ranks=55	one of the top 30 single SNPs located in gene regions (inclu...... one of the top 30 single SNPs located in gene regions (including 100kb of flanking sequences) ranked according to the mean rank calculated across three statistics; annotated by GWAS Catalog More...	Trend

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
REEP5	receptor accessory protein 5	5q22-q23	1(0/0/1)

Genes from other sources (count: 0)

SNPs in LD with rs469727 (count: 63) View in gBrowse (chr5:112089480..112296136 )

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: 63)

rs_ID	Functional Annotation	r²[population]
rs818425	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.881[CEU]; 1.0[CHB]; 0.833[JPT]
rs465454	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.881[CEU]; 0.907[CHD]; 0.91[GIH]; 0.813[JPT]; 0.808[MEX]; 0.815[TSI]
rs149192	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.811[JPT]
rs456313	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.881[CEU]; 0.871[CHB]; 0.83[JPT]
rs431287	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.844[CEU]; 0.904[JPT]
rs463229	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.844[CEU]; 0.904[JPT]
rs519397	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.881[CEU]; 0.813[JPT]
rs2909958	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.904[JPT]
rs351769	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.876[CEU]; 0.903[JPT]
rs153548	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.908[TSI]
rs2952615	NMD_transcript_variant; intron_variant	0.842[CEU]; 0.813[JPT]
rs461866	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.813[JPT]
rs151976	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.87[CEU]
rs9011	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.879[CEU]; 0.904[JPT]
rs149502		0.802[CEU]
rs1093677	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.839[CEU]; 0.901[CHD]; 1.0[GIH]; 0.812[JPT]; 0.932[MEX]; 0.832[TSI]
rs712668	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.844[CEU]; 0.895[JPT]
rs42427	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant	0.842[CEU]; 0.85[CHD]; 0.873[GIH]; 0.813[JPT]; 0.867[MEX]
rs458451	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.931[CHB]
rs1093611	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.932[TSI]
rs41115	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant	0.842[CEU]; 0.853[CHD]; 0.873[GIH]; 0.813[JPT]; 0.867[MEX]; 0.811[TSI]
rs495794	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.881[CEU]
rs712665	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant	1.0[CEU]; 0.907[CHD]; 1.0[GIH]; 0.813[JPT]; 0.935[MEX]; 0.954[TSI]
rs469827	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]
rs7213	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.877[CEU]
rs455412	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs501250	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.842[CEU]; 0.873[GIH]; 0.808[MEX]
rs382260	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.844[CEU]; 0.907[CHD]; 0.968[GIH]; 0.904[JPT]; 0.838[TSI]
rs2909786	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.813[JPT]
rs580237	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.828[CEU]; 0.875[JPT]
rs2545169	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.873[GIH]
rs497844	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.918[CEU]; 0.907[CHD]; 0.938[GIH]; 0.904[JPT]; 0.932[MEX]; 0.932[TSI]
rs419632	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.881[CEU]; 0.862[CHB]; 0.812[JPT]
rs411356	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.905[CHD]; 0.873[GIH]; 0.904[JPT]
rs2545167	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.818[ASW]; 0.842[CEU]; 0.907[CHD]; 0.968[GIH]; 0.904[JPT]; 0.801[MEX]
rs429427	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.801[CEU]; 0.907[CHD]; 0.968[GIH]; 0.904[JPT]
rs2909787	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.813[JPT]
rs372492	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.844[CEU]; 0.904[JPT]
rs481789	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.813[JPT]
rs469760	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.877[CEU]; 0.904[JPT]
rs818427	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.844[CEU]
rs2439591	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.873[GIH]; 0.801[MEX]
rs866006	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant	0.807[CEU]; 0.852[CHD]; 0.844[GIH]; 0.807[MEX]; 0.811[TSI]
rs351771	3_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	0.842[CEU]; 0.877[CHD]; 0.841[GIH]; 0.813[JPT]; 0.867[MEX]
rs430665	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant	1.0[CEU]; 0.907[CHD]; 1.0[GIH]; 0.813[JPT]; 0.934[MEX]; 0.954[TSI]
rs698405	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.942[ASW]; 1.0[CEU]; 1.0[CHD]; 1.0[GIH]; 0.904[JPT]; 0.978[LWK]; 1.0[MEX]; 1.0[TSI]
rs351770	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]
rs2545165	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.842[CEU]; 0.813[JPT]
rs2545162	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.877[CHD]; 0.873[GIH]; 0.813[JPT]
rs565453	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.813[JPT]
rs153546	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.881[CEU]; 0.861[TSI]
rs465899	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant	0.842[CEU]; 0.853[CHD]; 0.873[GIH]; 0.813[JPT]; 0.867[MEX]; 0.811[TSI]
rs712662	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.907[CHD]; 1.0[GIH]; 0.813[JPT]; 0.935[MEX]; 0.954[TSI]
rs2545166	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	0.839[CEU]; 0.904[JPT]
rs460832	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]
rs2431238	NMD_transcript_variant; intron_variant	0.841[GIH]; 0.801[MEX]
rs153571		0.801[MEX]
rs434157	NMD_transcript_variant; intron_variant	0.844[CEU]; 1.0[GIH]; 0.801[MEX]; 0.838[TSI]
rs368575	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.874[CHB]; 0.91[JPT]
rs464708	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.877[CHD]; 0.873[GIH]; 0.812[JPT]
rs1069061	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.844[CEU]; 1.0[GIH]; 0.932[MEX]; 0.838[TSI]
rs151977	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.828[ASW]; 0.844[CEU]; 0.907[CHD]; 0.91[GIH]; 0.813[JPT]; 0.932[MEX]; 0.815[TSI]
rs2464805	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.873[GIH]