ADHDgene Database

SNP Report

Basic Info

Name	rs2239393 dbSNP Ensembl
Location	Chr22:19950428(Fwd)
Variant Alleles	A/G
Ancestral Allele	A
Functional Annotation	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000207636) downstream_gene_variant(ENST00000467943) intron_variant(ENST00000407537; ENST00000412786; ENST00000403184; ENST00000406520; ENST00000207636; ENST00000403710; ENST00000449653; ENST00000361682) upstream_gene_variant(ENST00000428707; ENST00000585066; ENST00000493893)
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	LD-proxy

SNP related studies (count: 0)

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
COMT	catechol-O-methyltransferase	22q11.21	25(5/20/0)

Approved Symbol	Approved Name	Location
MIR4761	microRNA 4761	22

SNPs in LD with rs2239393 (count: 3) View in gBrowse (chr22:19945177..19951271 )

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]

rs4633	NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	2(1/1/0)	0.834[TSI]
rs740603	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	2(0/2/0)	0.819[CHB]
rs4680	NMD_transcript_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	22(4/18/0)	0.815[TSI]