ADHDgene Database

SNP Report

Basic Info

Name	rs12432593 dbSNP Ensembl
Location	Chr14:34731592(Fwd)
Variant Alleles	C/A
Ancestral Allele	C
Functional Annotation	intron_variant; nc_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000551935) nc_transcript_variant(ENST00000551935)
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Neale BM, 2010 (b)	A:C		GLM P-value=3.00E-05, meta-analysis P-value=0.07092 GLM P-value=3.00E-05, meta-analysis P-value=0.07092	One of the top 100 SNPs from imputed IMAGE II dataset One of the top 100 SNPs from imputed IMAGE II dataset	Non-significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location
EGLN3	egl nine homolog 3 (C. elegans)	14q12

SNPs in LD with rs12432593 (count: 10) View in gBrowse (chr14:34728231..34768053 )

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]

rs4624074	intron_variant; nc_transcript_variant	1(0/1/0)	0.928[CHD]; 0.817[JPT]
rs11625217	intron_variant; nc_transcript_variant	1(0/1/0)	1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[MEX]; 1.0[TSI]

rs_ID	Functional Annotation	r²[population]
rs11624983	intron_variant; nc_transcript_variant	0.855[CEU]; 0.827[CHD]
rs880666	intron_variant; nc_transcript_variant	0.822[CEU]; 0.842[CHB]; 0.951[CHD]; 0.859[JPT]
rs12589492	intron_variant; nc_transcript_variant	0.818[CEU]
rs12432591	intron_variant; nc_transcript_variant	0.897[YRI]
rs10140955	intron_variant; nc_transcript_variant	0.942[CHB]; 0.975[CHD]; 0.853[JPT]
rs2210068	intron_variant; nc_transcript_variant	0.928[CHD]; 0.817[JPT]
rs11847700	intron_variant; nc_transcript_variant	0.812[JPT]
rs4981227	intron_variant; nc_transcript_variant	0.822[CEU]; 0.842[CHB]; 0.95[JPT]