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	rs518147 dbSNP Ensembl
Location	ChrX:113818582(Fwd)
Variant Alleles	G/C
Ancestral Allele	C
Functional Annotation	5_prime_UTR_variant.
Consequence to Transcript	5_prime_UTR_variant(ENST00000371951; ENST00000276198; ENST00000371950)
No. of Studies	3 (significant: 3; non-significant: 0; trend: 0)
Source	Literature-origin

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result of Statistical Analysis
Ribases M, 2009(b)		Case-control test: lowest P-value=0.23 for genotype analysis...... Case-control test: lowest P-value=0.23 for genotype analysis, P-value=0.049 for allele analysis in adult combined ADHD. More...	no significance after correcting for multiple comparisons no significance after correcting for multiple comparisons	Significant
Xu X, 2009(a)	G-697C	TDT P-value=0.017, OR=1.7 TDT P-value=0.017, OR=1.7	significantly associated with ADHD, even after correcting P-...... significantly associated with ADHD, even after correcting P-values using the Bonferroni method for multiple tests. More...	Significant
Li J, 2006(a)	G/C	TDT P-value=0.01, X²=6.588 in ADHD; TDT P-value=0...... TDT P-value=0.01, X²=6.588 in ADHD; TDT P-value=0.041, X²=4.17 in ADHD-C; TDT P-value=0.261, X²=1.261 in ADHD-I More...	a preferential transmission of the G allele to ADHD probands...... a preferential transmission of the G allele to ADHD probands and biased transmission in families with ADHD-C probands More...	Significant

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
HTR2C	5-hydroxytryptamine (serotonin) receptor 2C	Xq24	5(2/3/0)

Genes from other sources (count: 0)

SNPs in LD with rs518147 (count: 29) View in gBrowse (chrX:113799907..113914990 )

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: 29)

rs_ID	Functional Annotation	r²[population]
rs533739		0.844[CEU]
rs7890739	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs493533		0.945[CEU]; 0.802[CHB]; 0.897[YRI]
rs498177	downstream_gene_variant; intron_variant	0.901[CEU]
rs478209		0.949[CEU]; 0.805[CHB]; 0.861[YRI]
rs12558624	intron_variant	0.847[YRI]
rs6579495	intron_variant	0.842[CHB]; 0.818[JPT]
rs7887868	intron_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs498207	upstream_gene_variant	0.944[CEU]; 1.0[CHB]; 1.0[JPT]; 0.949[YRI]
rs12855533	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs9698290	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs508865	upstream_gene_variant	0.945[CEU]; 0.802[CHB]; 0.8[YRI]
rs12847225	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs2192371	downstream_gene_variant; intron_variant	1.0[CEU]
rs12688102	intron_variant	0.949[CEU]; 0.885[CHB]; 1.0[JPT]
rs11798698	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs569959	intron_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]; 0.953[YRI]
rs543229	intron_variant; upstream_gene_variant	0.847[YRI]
rs2192372	intron_variant	1.0[CHB]; 1.0[JPT]
rs6579490	intron_variant	0.847[YRI]
rs539023		0.949[CEU]; 0.805[CHB]; 0.861[YRI]
rs547617		0.945[CEU]; 0.802[CHB]; 0.897[YRI]
rs547536		0.949[CEU]; 0.805[CHB]
rs556677	intron_variant; upstream_gene_variant	0.847[YRI]
rs12838742	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]; 0.828[YRI]
rs12854485	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs7055144	downstream_gene_variant; intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs521018	upstream_gene_variant	0.945[CEU]; 1.0[CHB]; 1.0[JPT]; 0.947[YRI]
rs5988072	downstream_gene_variant; intron_variant	0.901[CEU]