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	rs8074751 dbSNP Ensembl
Location	Chr17:63642542(Fwd)
Variant Alleles	G/A
Ancestral Allele	A
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000581734) intron_variant(ENST00000535342; ENST00000581739; ENST00000583466; ENST00000582795; ENST00000317442; ENST00000581734; ENST00000580694; ENST00000537949; ENST00000392769; ENST00000541355) nc_transcript_variant(ENST00000583466; ENST00000582795; ENST00000580694)
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
Mick E, 2010		C	TDT P-value=1.18E-06 (OR=0.69) TDT P-value=1.18E-06 (OR=0.69)	One of the top 20 associations from genome-wide association ...... One of the top 20 associations from genome-wide association results; annotated by GWAS Catalog More...	Trend

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 rs8074751 (count: 17) View in gBrowse (chr17:63601146..63648151 )

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: 17)

rs_ID	Functional Annotation	r²[population]
rs9910800	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 0.977[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 0.812[MKK]; 1.0[TSI]; 1.0[YRI]
rs8077097	NMD_transcript_variant; intron_variant	0.807[CHD]
rs9911307	NMD_transcript_variant; intron_variant	0.807[CHD]
rs1859454	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.855[CEU]; 1.0[CHB]; 1.0[CHD]; 0.93[GIH]; 1.0[JPT]; 0.853[MEX]; 0.849[MKK]; 0.951[TSI]
rs6504335	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.801[CEU]
rs2079301	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 0.812[MKK]; 1.0[TSI]; 1.0[YRI]
rs12600595	NMD_transcript_variant; intron_variant	0.807[CHD]
rs8073342	NMD_transcript_variant; downstream_gene_variant; intron_variant	1.0[JPT]
rs2189790	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]
rs7211291	NMD_transcript_variant; intron_variant	0.807[CHD]
rs8081822	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 1.0[MKK]; 1.0[TSI]; 1.0[YRI]
rs4791152	NMD_transcript_variant; intron_variant	0.864[CHD]; 1.0[JPT]
rs7221315	NMD_transcript_variant; intron_variant	0.807[CHD]
rs7222221	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.874[ASW]; 0.855[CEU]; 1.0[CHB]; 1.0[CHD]; 0.93[GIH]; 1.0[JPT]; 0.807[MEX]; 1.0[MKK]; 0.927[TSI]; 0.825[YRI]
rs972455	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.855[CEU]; 1.0[CHB]; 1.0[JPT]; 0.825[YRI]
rs4491571	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs7224424	NMD_transcript_variant; intron_variant	0.864[CHD]; 1.0[JPT]