SNP Report

Basic Info

Name	rs243021 dbSNP Ensembl
Location	chr2:60357684 - 60357684(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.496006
Functional Annotation	downstream_gene_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000441598, ENST00000453476); upstream_gene_variant(ENST00000457668)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Kajio, Y., 2014	C/T		P-value=0.0031, Pcorrected=0.100, OR=0.81 for BD in screenin...... P-value=0.0031, Pcorrected=0.100, OR=0.81 for BD in screening stage, P-value=0.92, OR=0.99 for replication. More...	The BD associations exhibited nominal significance for SNPs ...... The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031). More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2p16.1	1(1/0/0)

SNPs in LD with rs243021 (count: 11) View in gBrowse (chr2:60338433..60359572 )

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]
rs243083	downstream_gene_variant	0.889[CHD]; 0.829[JPT]
rs243085		0.829[JPT]
rs243090		0.832[CHD]
rs243018	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.952[CHB]; 0.919[CHD]; 0.943[JPT]
rs243020	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.943[JPT]
rs243019	downstream_gene_variant	1.0[CHB]; 0.864[CHD]; 1.0[JPT]
rs9309325	upstream_gene_variant	0.952[CHB]; 1.0[CHD]; 0.943[JPT]
rs243088		0.829[JPT]
rs243091		0.832[CHD]
rs12999941	intron_variant; non_coding_transcript_variant	0.952[CHB]; 0.945[CHD]; 0.883[JPT]
rs968919	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.952[CHB]; 0.972[CHD]; 0.943[JPT]

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Kajio, Y., 2014	P-value=0.12, Pcorrected=1, OR=0.89 for SZ in screening stage, P-value=0.59, OR=1.03 for replication.	No association was found for SZ.	Negative

Overlap with MDD from cross-disorder studies (count: 0)