ADHDgene Database

SNP Report

Basic Info

Name	rs12544554 dbSNP Ensembl
Location	Chr8:23105268(Fwd)
Variant Alleles	T/C
Ancestral Allele	T
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000519503; ENST00000517325; ENST00000519414) intron_variant(ENST00000519529; ENST00000519503; ENST00000313219; ENST00000397677; ENST00000519984; ENST00000517325; ENST00000519414) nc_transcript_variant(ENST00000519529)
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)
CHMP7	CHMP family, member 7	8p21.2	1(0/0/1)

SNPs in LD with rs12544554 (count: 5) View in gBrowse (chr8:23096594..23110503 )

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]

rs2280934	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/0/1)	0.919[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]
rs7463256	intron_variant; upstream_gene_variant	1(0/0/1)	1.0[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]
rs11135712	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)	1.0[CEU]; 0.938[CHB]; 0.901[JPT]
rs13268919	upstream_gene_variant	1(0/0/1)	0.942[CHB]; 0.904[JPT]; 1.0[YRI]
rs2294123	5_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)	1.0[CEU]; 1.0[CHB]; 1.0[JPT]; 0.879[YRI]