ADHDgene Database

SNP Report

Basic Info

Name	rs1044482 dbSNP Ensembl
Location	Chr11:71155171(Fwd)
Variant Alleles	C/T/A
Ancestral Allele	C
Functional Annotation	intron_variant; missense_variant; splice_region_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000527316) missense_variant(ENST00000525346; ENST00000526780; ENST00000524694; ENST00000407721; ENST00000529990; ENST00000527452; ENST00000355527; ENST00000531364) splice_region_variant(ENST00000527316) synonymous_variant(ENST00000525346; ENST00000526780; ENST00000524694; ENST00000407721; ENST00000529990; ENST00000527452; ENST00000355527; ENST00000531364) upstream_gene_variant(ENST00000534701; ENST00000529369)
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	LD-proxy

SNP related studies (count: 0)

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
DHCR7	7-dehydrocholesterol reductase	11q13.4	1(0/0/1)

SNPs in LD with rs1044482 (count: 5) View in gBrowse (chr11:71153459..71171003 )

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]

rs12422045	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)	1.0[CEU]; 1.0[CHB]; 0.937[JPT]
rs7928249	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)	0.946[CEU]; 0.907[CHB]; 0.937[JPT]
rs3750997	5_prime_UTR_variant; intron_variant; upstream_gene_variant	1(0/0/1)	1.0[CEU]; 0.822[CHB]; 0.956[YRI]
rs12800438	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)	0.946[CEU]; 0.856[CHB]; 0.937[JPT]
rs11603330	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)	1.0[CEU]; 1.0[CHB]; 0.937[JPT]