ADHDgene Database

SNP Report

Basic Info

Name	rs2049045 dbSNP Ensembl
Location	Chr11:27694241(Fwd)
Variant Alleles	G/C
Ancestral Allele	G
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000530786) intron_variant(ENST00000501663; ENST00000502161; ENST00000530686; ENST00000499568; ENST00000499008; ENST00000501176; ENST00000500662; ENST00000525950; ENST00000418212; ENST00000533131; ENST00000395981; ENST00000533246; ENST00000532997; ENST00000530786; ENST00000584049; ENST00000395983; ENST00000395978; ENST00000438929; ENST00000530861; ENST00000395986; ENST00000356660; ENST00000314915; ENST00000395980; ENST00000420794) nc_transcript_variant(ENST00000501663; ENST00000502161; ENST00000530686; ENST00000499568; ENST00000499008; ENST00000501176; ENST00000500662; ENST00000584049)
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Lanktree M, 2008	G:C		X²=2.27, P-value=0.13 in the family-based sample;...... X²=2.27, P-value=0.13 in the family-based sample; X²=2.64, P-value=0.11, OR=1.51 in the case-control sample; X²=6.1, P-value=0.014, OR=1.6 in the combined samples More...	showed association in the combined samples showed association in the combined samples	Significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
BDNF	brain-derived neurotrophic factor	11p14.1	14(8/6/0)

Approved Symbol	Approved Name	Location
BDNF-AS1	BDNF antisense RNA 1 (non-protein coding)	11p14.1

SNPs in LD with rs2049045 (count: 19) View in gBrowse (chr11:27571603..27728539 )

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]

rs10767664	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)	0.82[CEU]
rs6265	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant	12(3/9/0)	1.0[CEU]
rs7103411	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	2(2/0/0)	0.838[CEU]
rs11030104	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)	0.941[CEU]

rs_ID	Functional Annotation	r²[population]
rs2030323	intron_variant; nc_transcript_variant	0.84[CEU]
rs12419948	intron_variant; nc_transcript_variant	0.942[CEU]
rs4923457	intron_variant; nc_transcript_variant	0.942[CEU]
rs6484320	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.839[CEU]
rs4923460	intron_variant; nc_transcript_variant; upstream_gene_variant	0.941[CEU]
rs10501087	intron_variant; nc_transcript_variant	0.941[CEU]
rs4923461	intron_variant; nc_transcript_variant; upstream_gene_variant	0.941[CEU]
rs1304100	intron_variant; nc_transcript_variant	0.818[CEU]
rs16917237	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.938[CEU]
rs11030084	intron_variant; nc_transcript_variant	1.0[CEU]
rs879048	downstream_gene_variant; intron_variant; nc_transcript_variant	0.941[CEU]
rs4074134	intron_variant; nc_transcript_variant	0.941[CEU]
rs1488830	downstream_gene_variant; intron_variant; nc_transcript_variant	0.941[CEU]
rs988748	intron_variant; nc_transcript_variant; upstream_gene_variant	0.839[CEU]
rs925947	intron_variant; nc_transcript_variant	0.94[CEU]