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	rs2275723 dbSNP Ensembl
Location	Chr10:135139635(Fwd)
Variant Alleles	G/A
Ancestral Allele	G
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000368558) downstream_gene_variant(ENST00000368556; ENST00000368555) intron_variant(ENST00000368554; ENST00000252939) nc_transcript_variant(ENST00000467433; ENST00000467611) non_coding_exon_variant(ENST00000467433; ENST00000467611)
No. of Studies	1 (significant: 1; non-significant: 0; 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/T		allelic ETDT P-value=0.039, X²(1df)=4.267 allelic ETDT P-value=0.039, X²(1df)=4.267	TDT statistic was significant TDT statistic was significant	Significant

SNP related genes (count: 2)

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: 1)

Approved Symbol	Approved Name	Location
ZNF511	zinc finger protein 511	10q26.3

SNPs in LD with rs2275723 (count: 28) View in gBrowse (chr10:135076523..135146714 )

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: 2)

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

rs11101694	intron_variant	1(0/1/0)	0.852[CHD]
rs2298122	intron_variant; upstream_gene_variant	1(0/1/0)	0.852[CHD]

LD-proxies (count: 26)

rs_ID	Functional Annotation	r²[population]
rs34466598	intron_variant	0.899[CEU]
rs2995307	downstream_gene_variant; intron_variant; upstream_gene_variant	0.835[GIH]; 0.916[TSI]
rs3008339	NMD_transcript_variant; intron_variant	0.911[GIH]; 0.911[LWK]; 0.836[MEX]; 0.878[TSI]
rs3008335	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.878[TSI]
rs2995308	downstream_gene_variant; intron_variant; upstream_gene_variant	0.835[GIH]; 0.841[TSI]
rs2995300	3_prime_UTR_variant; nc_transcript_variant; non_coding_exon_variant	0.835[GIH]; 0.808[TSI]
rs3008321	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	0.911[GIH]; 0.878[TSI]
rs2995310	downstream_gene_variant; intron_variant	0.911[GIH]; 0.808[TSI]
rs2275725	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.871[GIH]; 0.836[MEX]; 0.877[TSI]
rs3008338	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]
rs3008323	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.832[TSI]
rs3008328	downstream_gene_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.916[TSI]
rs3008354	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.852[CHD]
rs3008324	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.842[TSI]
rs3008352	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.852[CHD]
rs2995318	downstream_gene_variant; upstream_gene_variant	0.911[GIH]
rs1131718	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	0.835[GIH]; 0.842[TSI]
rs2995314	downstream_gene_variant; intron_variant; nc_transcript_variant	0.91[GIH]; 0.835[TSI]
rs2995324	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.842[TSI]
rs3008337	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.878[TSI]
rs3008334	NMD_transcript_variant; synonymous_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.842[TSI]
rs2298120	NMD_transcript_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	0.826[CEU]; 1.0[CHB]; 1.0[CHD]
rs11101690	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.828[CHD]
rs3008333	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.911[GIH]; 0.836[MEX]; 0.842[TSI]
rs12250582	downstream_gene_variant; intron_variant; upstream_gene_variant	0.828[CHD]
rs2995332	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.852[CHD]