ADHDgene Database

SNP Report

Basic Info

Name	rs2550948 dbSNP Ensembl
Location	Chr5:1450444(Fwd)
Variant Alleles	C/T
Ancestral Allele	C
Functional Annotation	upstream_gene_variant.
Consequence to Transcript	upstream_gene_variant(ENST00000270349)
No. of Studies	2 (significant: 2; non-significant: 0; trend: 0)
Source	Literature-origin

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Brookes K, 2006	A/G		UNPHASED TDT P-value=0.0121; WHAP TDT P-value=0.096 UNPHASED TDT P-value=0.0121; WHAP TDT P-value=0.096	significant association was observed in UNPHASED analysis significant association was observed in UNPHASED analysis	Significant
Genro JP, 2008	A/G		P-value=0.363 for total sample; P-value=0.013 for combined s...... P-value=0.363 for total sample; P-value=0.013 for combined sample More...	showed biased transmission for ADHD children in the DSM-IV c...... showed biased transmission for ADHD children in the DSM-IV combined subtype More...	Significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
SLC6A3	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	5p15.3	68(42/25/1)

SNPs in LD with rs2550948 (count: 9) View in gBrowse (chr5:1443498..1477310 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²>=0.8.

rs_ID	Functional Annotation	#studies(significant/non-significant/trend)	r²[population]

rs2550956	upstream_gene_variant	2(0/2/0)	0.851[CHB]; 0.904[JPT]
rs2937639	intron_variant; upstream_gene_variant	1(0/1/0)	0.923[CEU]; 0.851[CHB]; 0.866[CHD]; 0.833[JPT]; 1.0[MEX]; 0.84[TSI]

rs_ID	Functional Annotation	r²[population]
rs27053	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.851[CHB]; 0.819[CHD]; 0.904[JPT]
rs2455391	intron_variant; upstream_gene_variant	0.904[JPT]
rs8352	3_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant	0.851[CHB]; 0.904[JPT]
rs31491	NMD_transcript_variant; downstream_gene_variant; intron_variant	0.851[CHB]
rs27056	NMD_transcript_variant; intron_variant	0.851[CHB]; 0.904[JPT]
rs2078247	downstream_gene_variant	0.849[CHB]; 0.904[JPT]
rs27052	NMD_transcript_variant; intron_variant; upstream_gene_variant	0.851[CHB]; 0.819[CHD]; 0.904[JPT]