ADHDgene Database

SNP Report

Basic Info

Name	rs2288648 dbSNP Ensembl
Location	Chr7:150774308(Fwd)
Variant Alleles	G/A
Ancestral Allele	A
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000540185) downstream_gene_variant(ENST00000485713; ENST00000496663; ENST00000478883; ENST00000478477; ENST00000461979; ENST00000472204; ENST00000392826; ENST00000469467; ENST00000461735; ENST00000460010; ENST00000482697; ENST00000488752; ENST00000476627; ENST00000482202; ENST00000462940; ENST00000392818; ENST00000297533; ENST00000310317; ENST00000492838; ENST00000413384) missense_variant(ENST00000483105; ENST00000482571; ENST00000353841; ENST00000297532) nc_transcript_variant(ENST00000466855; ENST00000482806; ENST00000489884; ENST00000483953; ENST00000459800; ENST00000467237; ENST00000460980; ENST00000469237) non_coding_exon_variant(ENST00000482806; ENST00000489884; ENST00000483953; ENST00000459800; ENST00000466855; ENST00000467237; ENST00000469237; ENST00000460980) upstream_gene_variant(ENST00000465272; ENST00000485974)
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
Laurin N, 2008(a)	T/C		P-value=0.496 in the catergorical analysis, P-value>0.05 in ...... P-value=0.496 in the catergorical analysis, P-value>0.05 in the quantitative analysis More...	no significant evidence of association no significant evidence of association	Non-significant

SNP related genes (count: 5)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
ISL1	ISL LIM homeobox 1	5q11.2	1(0/1/0)

Approved Symbol	Approved Name	Location
TMUB1	transmembrane and ubiquitin-like domain containing 1	7q36.1
SLC4A2	solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)	7q35-q36
LOC100996677	uncharacterized LOC100996677 [MODEL Refseq, protein coding]	7
FASTK	Fas-activated serine/threonine kinase	7q35

SNPs in LD with rs2288648 (count: 9) View in gBrowse (chr7:150773165..150805137 )

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	r²[population]
rs4440544	intron_variant; nc_transcript_variant	0.843[CHB]; 0.915[JPT]
rs4517031	intron_variant; nc_transcript_variant	0.843[CHB]; 0.915[JPT]
rs2303941	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	0.92[CHB]; 0.849[JPT]; 0.863[YRI]
rs4725391	intron_variant; nc_transcript_variant; upstream_gene_variant	0.915[JPT]
rs4725390	intron_variant; nc_transcript_variant; upstream_gene_variant	0.843[CHB]; 0.915[JPT]
rs10279252	intron_variant; nc_transcript_variant	0.843[CHB]; 0.915[JPT]
rs4725991	intron_variant; nc_transcript_variant	0.805[CHD]; 0.834[JPT]
rs10279150	intron_variant; nc_transcript_variant	0.896[CHB]
rs2303940	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	1.0[CHB]; 1.0[CHD]; 0.849[JPT]; 1.0[MEX]; 0.848[YRI]