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	rs165728 dbSNP Ensembl
Location	Chr22:19957023(Fwd)
Variant Alleles	C/T
Ancestral Allele	T
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000361682; ENST00000449653) downstream_gene_variant(ENST00000480792; ENST00000406259; ENST00000403710; ENST00000344269; ENST00000428707; ENST00000207636; ENST00000403184; ENST00000401994; ENST00000406522; ENST00000407537; ENST00000495096; ENST00000406520; ENST00000412786; ENST00000263207)
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
Nyman ES, 2007			No available information. No available information.	No evidence of association was seen. No evidence of association was seen.	Non-significant

SNP related genes (count: 2)

Literature-origin genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
COMT	catechol-O-methyltransferase	22q11.21	25(5/20/0)
ARVCF	armadillo repeat gene deleted in velocardiofacial syndrome	22q11.21	1(1/0/0)

Genes from other sources (count: 0)

SNPs in LD with rs165728 (count: 19) View in gBrowse (chr22:19953832..19999492 )

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: 19)

rs_ID	Functional Annotation	r²[population]
rs165849	downstream_gene_variant; intron_variant; nc_transcript_variant	0.85[JPT]
rs2238780	intron_variant; nc_transcript_variant; upstream_gene_variant	0.9[CHB]; 0.89[JPT]
rs887201	intron_variant; nc_transcript_variant; upstream_gene_variant	0.9[CHB]; 0.815[CHD]; 0.84[JPT]; 0.944[MEX]; 1.0[TSI]
rs887203	intron_variant; nc_transcript_variant	0.94[CHB]; 0.886[JPT]
rs2531697	intron_variant; nc_transcript_variant	0.9[CHB]; 0.812[CHD]; 0.89[JPT]; 0.944[MEX]; 1.0[TSI]
rs2073746	intron_variant; nc_transcript_variant; upstream_gene_variant	0.9[CHB]; 0.835[CHD]; 0.89[JPT]
rs2073747	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	0.9[CHB]; 0.89[JPT]
rs887199	downstream_gene_variant; intron_variant; nc_transcript_variant	0.85[JPT]
rs2238789	intron_variant; nc_transcript_variant; upstream_gene_variant	0.9[CHB]; 0.877[JPT]
rs165824	downstream_gene_variant; intron_variant; nc_transcript_variant	0.897[JPT]
rs2531694	intron_variant; nc_transcript_variant	0.854[CHB]; 0.89[JPT]
rs1110477	downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]; 0.944[MEX]; 1.0[TSI]
rs174699	NMD_transcript_variant; downstream_gene_variant; intron_variant	1.0[CHB]; 0.952[CHD]; 0.847[GIH]; 0.897[JPT]; 0.944[MEX]; 1.0[TSI]
rs165815	downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant	0.85[JPT]
rs9265	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.897[JPT]
rs1210744	intron_variant; nc_transcript_variant; upstream_gene_variant	0.895[CHB]; 0.886[JPT]
rs174697	NMD_transcript_variant; downstream_gene_variant; intron_variant	1.0[CEU]; 0.88[CHD]; 0.847[GIH]; 0.839[JPT]; 0.944[MEX]; 1.0[TSI]
rs1110479	downstream_gene_variant; intron_variant; nc_transcript_variant	0.945[CHB]; 0.943[JPT]
rs2256984	intron_variant; nc_transcript_variant	0.9[CHB]; 0.943[JPT]