ADHDgene Database

SNP Report

Basic Info

Name	rs2587695 dbSNP Ensembl
Location	Chr2:120321817(Fwd)
Variant Alleles	A/G
Ancestral Allele	G
Functional Annotation	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000295220; ENST00000413057) downstream_gene_variant(ENST00000463985; ENST00000442513; ENST00000594033) intron_variant(ENST00000295220; ENST00000413057; ENST00000413369; ENST00000598644; ENST00000488358; ENST00000602047; ENST00000594371) nc_transcript_variant(ENST00000488358)
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=2.73E-07, Mean of ranks=2 ANOVA P-value=2.73E-07, Mean of ranks=2	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)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
PCDP1	primary ciliary dyskinesia protein 1 [Validated RefSeq, protein coding gene]	2q14.2	1(0/0/1)

SNPs in LD with rs2587695 (count: 13) View in gBrowse (chr2:120283173..120323261 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²>=0.8.

rs_ID	Functional Annotation	r²[population]
rs2579623	upstream_gene_variant	0.889[CEU]; 1.0[CHB]; 1.0[JPT]; 0.82[YRI]
rs2579626	NMD_transcript_variant; intron_variant	0.838[GIH]; 0.852[TSI]
rs2587653	upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 0.937[CHD]; 0.943[JPT]; 1.0[MEX]; 0.919[MKK]; 0.933[TSI]
rs2587686	upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 0.949[GIH]; 1.0[JPT]; 0.844[LWK]; 1.0[MEX]; 0.923[MKK]; 0.911[TSI]
rs2587654	upstream_gene_variant	0.855[CEU]; 0.946[CHB]; 0.89[JPT]
rs2579621		0.962[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 0.941[JPT]; 1.0[MEX]; 0.92[MKK]; 0.934[TSI]
rs1992248	upstream_gene_variant	0.889[CEU]; 0.946[CHB]; 0.968[CHD]; 0.852[GIH]; 0.89[JPT]; 0.957[MEX]; 0.867[MKK]; 0.868[TSI]
rs2579618		0.962[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.818[LWK]; 1.0[MEX]; 0.923[MKK]; 0.955[TSI]
rs2587683		0.85[CEU]; 1.0[CHB]; 1.0[CHD]; 0.881[GIH]; 1.0[JPT]; 0.957[MEX]; 0.892[MKK]; 0.892[TSI]
rs2587710	NMD_transcript_variant; intron_variant	0.962[CEU]; 1.0[CHB]; 1.0[JPT]
rs2920695	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.889[CEU]; 1.0[CHB]; 1.0[JPT]
rs2587706	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.962[CEU]; 1.0[CHB]; 1.0[JPT]; 0.886[YRI]
rs2579624	5_prime_UTR_variant; NMD_transcript_variant; missense_variant	0.889[CEU]; 1.0[CHB]; 1.0[JPT]