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	rs2107654 dbSNP Ensembl
Location	Chr17:63633073(Fwd)
Variant Alleles	T/C
Ancestral Allele	T
Functional Annotation	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000585168) NMD_transcript_variant(ENST00000577662; ENST00000581734) downstream_gene_variant(ENST00000582795) intron_variant(ENST00000577662; ENST00000535342; ENST00000581739; ENST00000583466; ENST00000317442; ENST00000537949; ENST00000580694; ENST00000581734; ENST00000541355; ENST00000392769) nc_transcript_variant(ENST00000583466; ENST00000580694)
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
Mick E, 2010		T	TDT P-value=1.52E-05 (OR=0.72) TDT P-value=1.52E-05 (OR=0.72)	One of the top 20 associations from genome-wide association ...... One of the top 20 associations from genome-wide association results More...	Non-significant

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
CEP112	centrosomal protein 112kDa	17q24.2	1(0/0/1)

Genes from other sources (count: 0)

SNPs in LD with rs2107654 (count: 15) View in gBrowse (chr17:63629238..63646603 )

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: 15)

rs_ID	Functional Annotation	r²[population]
rs16962555	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.826[CHB]; 0.866[JPT]
rs11658306	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.83[CHB]; 0.866[JPT]
rs6504335	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.843[CEU]
rs8071951	NMD_transcript_variant; downstream_gene_variant; intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs7211088	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.83[CHB]; 0.866[JPT]
rs7218558	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.83[CHB]; 0.866[JPT]
rs7218878	NMD_transcript_variant; downstream_gene_variant; intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 0.977[GIH]; 1.0[JPT]; 0.917[MEX]; 0.977[TSI]
rs9899991	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.851[CEU]; 1.0[CHB]; 1.0[CHD]; 0.931[GIH]; 1.0[JPT]; 0.84[MEX]; 0.933[TSI]
rs4791150	NMD_transcript_variant; downstream_gene_variant; intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[MEX]; 1.0[TSI]
rs8068462	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.817[CEU]; 1.0[CHB]; 1.0[CHD]; 0.864[GIH]; 1.0[JPT]; 0.832[LWK]; 0.8[MEX]; 0.891[TSI]; 0.927[YRI]
rs8076381	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.96[CEU]; 1.0[CHB]; 1.0[JPT]; 0.844[YRI]
rs9915454	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.921[CEU]; 1.0[CHB]; 1.0[CHD]; 0.954[GIH]; 0.953[JPT]; 1.0[MEX]; 0.955[TSI]; 0.801[YRI]
rs9916262	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.83[CHB]; 0.866[JPT]
rs9896420	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.811[CEU]; 1.0[CHB]; 1.0[JPT]; 0.877[YRI]
rs4791147	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.851[CEU]; 1.0[CHB]; 1.0[JPT]; 0.92[YRI]