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	rs12244716 dbSNP Ensembl
Location	Chr10:135128382(Fwd)
Variant Alleles	G/C
Ancestral Allele	C
Functional Annotation	downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000463816; ENST00000359035; ENST00000361518; ENST00000482153) intron_variant(ENST00000368554) upstream_gene_variant(ENST00000482278)
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
Laurin N, 2005	C/G		allelic ETDT P-value=0.323, X²(1df)=0.976 allelic ETDT P-value=0.323, X²(1df)=0.976	TDT statistic was not significant TDT statistic was not significant	Non-significant

SNP related genes (count: 3)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
CALY	calcyon neuron-specific vesicular protein	10q26.3	2(1/1/0)

Genes from other sources (count: 2)

Approved Symbol	Approved Name	Location
ZNF511	zinc finger protein 511	10q26.3
TUBGCP2	tubulin, gamma complex associated protein 2	10q26.3

SNPs in LD with rs12244716 (count: 18) View in gBrowse (chr10:135081754..135160950 )

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: 3)

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

rs4838721	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)	0.823[JPT]
rs2298122	intron_variant; upstream_gene_variant	1(0/1/0)	0.904[JPT]
rs11101694	intron_variant	1(0/1/0)	1.0[CEU]; 0.904[JPT]

LD-proxies (count: 15)

rs_ID	Functional Annotation	r²[population]
rs2995335	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[JPT]
rs12250582	downstream_gene_variant; intron_variant; upstream_gene_variant	0.918[CEU]; 0.822[JPT]; 0.886[YRI]
rs3008352	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[JPT]
rs3008354	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[JPT]
rs3008349	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 1.0[JPT]
rs2275724	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.904[JPT]
rs3008348	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[JPT]
rs2298120	NMD_transcript_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	1.0[CEU]
rs7085530	downstream_gene_variant; intron_variant; upstream_gene_variant	0.823[CHB]; 1.0[JPT]
rs2105341	downstream_gene_variant; intron_variant	1.0[CEU]; 0.905[JPT]
rs11101672	downstream_gene_variant; intron_variant; upstream_gene_variant	0.8[JPT]
rs11101684	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.877[JPT]
rs2995332	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1.0[CEU]; 1.0[JPT]
rs11101690	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[JPT]
rs3008336	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.904[JPT]