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	rs616668 dbSNP Ensembl
Location	Chr12:111974280(Fwd)
Variant Alleles	T/G
Ancestral Allele	T
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000483311) intron_variant(ENST00000548492; ENST00000377617; ENST00000550104; ENST00000389153; ENST00000392645; ENST00000535949; ENST00000542287; ENST00000483311; ENST00000471866; ENST00000549455) nc_transcript_variant(ENST00000392645; ENST00000549455)
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
Stergiakouli E., 2012	G/T	G	P=0.00000862, OR=1.38, 95% CI=1.20-1.59 P=0.00000862, OR=1.38, 95% CI=1.20-1.59	One of the top 24 independent SNP in this ADHD GWAS. One of the top 24 independent SNP in this ADHD GWAS.	Trend

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
ATXN2	ataxin 2	12q23-q24.1	1(0/0/1)

Genes from other sources (count: 0)

SNPs in LD with rs616668 (count: 48) View in gBrowse (chr12:111844218..112158966 )

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: 48)

rs_ID	Functional Annotation	r²[population]
rs607316	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 1.0[CHB]; 0.947[CHD]; 1.0[GIH]; 0.887[JPT]; 1.0[TSI]
rs3815021	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.83[CHB]
rs12580300	intron_variant	0.95[CEU]; 0.906[CHB]; 0.886[JPT]; 0.85[YRI]
rs1029388	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.95[CEU]; 0.916[TSI]
rs7301040	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.868[YRI]
rs10774631	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]
rs2301621	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.912[ASW]; 0.95[CEU]; 1.0[CHB]; 0.947[CHD]; 0.928[GIH]; 0.887[JPT]; 0.899[LWK]; 0.912[MEX]; 0.916[TSI]; 0.865[YRI]
rs616513	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs616559	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.954[CHB]; 0.898[CHD]; 1.0[GIH]; 0.887[JPT]; 1.0[TSI]
rs2239197	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.826[CHB]
rs657197	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 1.0[TSI]
rs11065898	intron_variant; nc_transcript_variant	0.828[ASW]; 0.86[CEU]; 0.91[CHB]; 1.0[CHD]; 0.928[GIH]; 1.0[JPT]; 0.949[LWK]; 0.912[MEX]; 0.878[TSI]; 0.923[YRI]
rs610769	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.954[CHB]; 0.887[JPT]; 0.934[YRI]
rs688812	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 0.947[CHD]; 1.0[GIH]; 0.837[JPT]; 0.95[LWK]; 1.0[MEX]; 0.838[MKK]; 1.0[TSI]; 0.934[YRI]
rs2239194	downstream_gene_variant; intron_variant	0.954[CHB]; 0.946[CHD]; 0.813[GIH]; 1.0[JPT]
rs2339816	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.946[CEU]; 1.0[CHB]; 1.0[JPT]; 0.931[YRI]
rs628825	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs2238154	intron_variant; nc_transcript_variant	0.95[CEU]; 0.879[TSI]
rs2073950	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.912[ASW]; 0.95[CEU]; 1.0[CHB]; 0.947[CHD]; 0.928[GIH]; 0.887[JPT]; 0.949[LWK]; 0.912[MEX]; 0.916[TSI]; 0.931[YRI]
rs739496	3_prime_UTR_variant; downstream_gene_variant	0.904[CEU]; 0.916[TSI]
rs617044	downstream_gene_variant; intron_variant	0.825[MEX]
rs2285518	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.83[CHB]
rs659964	intron_variant; nc_transcript_variant	0.825[MEX]; 0.81[MKK]
rs7965040	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.95[CEU]; 1.0[CHB]; 0.947[CHD]; 0.893[GIH]; 0.887[JPT]; 0.916[TSI]
rs847895	intron_variant	0.825[MEX]
rs7296313	intron_variant; nc_transcript_variant	0.904[CEU]
rs11065941	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.83[CHB]
rs12230853	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.83[CHB]
rs848132	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[ASW]; 1.0[CEU]; 0.954[CHB]; 0.898[CHD]; 1.0[GIH]; 0.887[JPT]; 1.0[LWK]; 1.0[MEX]; 1.0[MKK]; 1.0[TSI]; 1.0[YRI]
rs625093	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.954[CHB]; 0.887[JPT]; 0.934[YRI]
rs609230	intron_variant; nc_transcript_variant; upstream_gene_variant	0.825[MEX]
rs630616	intron_variant; nc_transcript_variant	0.825[MEX]
rs638791	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[ASW]; 1.0[CEU]; 0.954[CHB]; 0.898[CHD]; 1.0[GIH]; 0.883[JPT]; 0.95[LWK]; 1.0[MEX]; 0.838[MKK]; 1.0[TSI]; 0.931[YRI]
rs10849947	intron_variant; nc_transcript_variant	0.946[CEU]
rs10849952	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.83[CHB]
rs632650	downstream_gene_variant; intron_variant	0.825[MEX]
rs12369009	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 1.0[TSI]
rs2239195	intron_variant; nc_transcript_variant	0.903[CEU]; 0.954[CHB]; 1.0[JPT]; 0.931[YRI]
rs6490162	NMD_transcript_variant; intron_variant	0.95[CEU]; 0.952[CHB]; 0.947[CHD]; 0.926[GIH]; 0.824[JPT]; 0.916[TSI]
rs630512	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.95[CEU]; 1.0[TSI]
rs10849949	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.95[CEU]; 0.916[TSI]
rs7398705	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.954[CHB]; 0.898[CHD]; 1.0[GIH]; 0.887[JPT]; 1.0[TSI]
rs7134740	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.912[ASW]; 0.95[CEU]; 1.0[CHB]; 0.947[CHD]; 0.895[GIH]; 0.887[JPT]; 0.949[LWK]; 0.912[MEX]; 0.916[TSI]; 0.931[YRI]
rs3858705	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.826[CHB]
rs2301622	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.948[CEU]
rs3742003	downstream_gene_variant; intron_variant	0.95[CEU]; 0.879[TSI]
rs2283358	intron_variant; nc_transcript_variant	0.95[CEU]; 0.908[CHB]; 1.0[JPT]
rs4766577	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.83[CHB]