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	rs2281597 dbSNP Ensembl
Location	chr1:34359858(Fwd)
Variant Alleles	G/C
Ancestral Allele	C
Functional Annotation	intron_variant; NMD_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000241312; ENST00000373381) NMD_transcript_variant(ENST00000241312)
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=5.41E-07, Mean of ranks=18 ANOVA P-value=5.41E-07, Mean of ranks=18	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)
CSMD2	CUB and Sushi multiple domains 2	1p34.3	1(0/0/1)

Genes from other sources (count: 0)

SNPs in LD with rs2281597 (count: 23) View in gBrowse (chr1:34180842..34370091 )

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: 23)

rs_ID	Functional Annotation	r²[population]
rs3856129	5_prime_UTR_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[LWK]
rs724123	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.864[JPT]
rs10753294	intron_variant; NMD_transcript_variant	1.0[CEU]; 0.971[TSI]; 1.0[CHB]; 0.941[CHD]; 1.0[JPT]; 0.859[MEX]
rs1321628	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	0.864[JPT]
rs4653358	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.802[TSI]; 0.888[CHB]; 0.864[JPT]; 1.0[LWK]; 0.844[MEX]; 1.0[MKK]
rs1033727	intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant	0.942[CEU]; 1.0[CHB]
rs746667	intron_variant; NMD_transcript_variant	1.0[LWK]; 1.0[MKK]
rs1325241	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[LWK]
rs6425857	intron_variant; NMD_transcript_variant	0.841[CEU]; 0.886[TSI]; 0.846[JPT]; 1.0[LWK]; 1.0[MKK]
rs12060795	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.864[JPT]
rs10753290	intron_variant; NMD_transcript_variant	1.0[MKK]
rs10799006	intron_variant; NMD_transcript_variant	1.0[CEU]; 0.971[TSI]; 1.0[ASW]; 0.846[JPT]; 1.0[LWK]; 0.859[MEX]; 1.0[MKK]
rs10914808	intron_variant; NMD_transcript_variant	0.89[CEU]; 0.846[JPT]
rs1108929	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	0.935[GIH]; 1.0[LWK]; 1.0[MKK]
rs2031476	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[LWK]
rs10799005	intron_variant; NMD_transcript_variant	0.851[CEU]
rs2273570	intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.878[GIH]
rs753893	intron_variant; NMD_transcript_variant; upstream_gene_variant	0.878[GIH]; 1.0[LWK]; 1.0[MKK]
rs16835742	intron_variant; NMD_transcript_variant	1.0[LWK]
rs6425855	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.864[JPT]; 1.0[LWK]; 0.844[MEX]; 1.0[MKK]
rs1321627	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	0.935[GIH]; 1.0[LWK]; 1.0[MKK]
rs10379	downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.935[GIH]; 1.0[MKK]
rs1884984	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]