ADHDgene Database

SNP Report

Basic Info

Name	rs412050 dbSNP Ensembl
Location	Chr22:22307519(Fwd)
Variant Alleles	G/C
Ancestral Allele	G
Functional Annotation	downstream_gene_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000436282; ENST00000444502; ENST00000398793; ENST00000357179; ENST00000457179; ENST00000457270) upstream_gene_variant(ENST00000497072; ENST00000397495; ENST00000263212)
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
Lesch KP, 2008			ANOVA P-value=5.83E-06, Mean of ranks=23 ANOVA P-value=5.83E-06, Mean of ranks=23	one of the top 30 single SNPs located in gene regions (inclu...... one of the top 30 single SNPs located in gene regions (including 100kb of flanking sequences) ranked according to the mean rank calculated across three statistics; annotated by GWAS Catalog More...	Trend

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
PPM1F	protein phosphatase, Mg2+/Mn2+ dependent, 1F	22q11.22	1(0/0/1)

Approved Symbol	Approved Name	Location
TOP3B	topoisomerase (DNA) III beta	22q11.22

SNPs in LD with rs412050 (count: 11) View in gBrowse (chr22:22122149..22342464 )

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]
rs8140233	intron_variant	1.0[CHB]
rs239915	3_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1.0[CHB]
rs17759796	intron_variant	1.0[CHB]
rs6000236	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.927[CEU]; 1.0[CHB]
rs8136405	downstream_gene_variant; intron_variant	1.0[CHB]
rs1967938	downstream_gene_variant	1.0[CHB]
rs17759598	downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CHB]
rs735244	5_prime_UTR_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CHB]
rs240065	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.927[CEU]; 1.0[CHB]; 0.917[GIH]; 0.917[MEX]; 0.959[TSI]
rs239914	NMD_transcript_variant; intron_variant; synonymous_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[YRI]
rs17821866	downstream_gene_variant	0.927[CEU]; 1.0[CHB]; 0.836[MEX]