SNP Report

Basic Info

Name	rs2839224 dbSNP Ensembl
Location	chr21:46357307 - 46357307(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.142772
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000466474, ENST00000483844); intron_variant(ENST00000359568, ENST00000480896); non_coding_transcript_variant(ENST00000480896)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Anitha, A., 2008	G/A		Genotypic P-value = 0.402, allelic P-value = 0.468 for BD wh...... Genotypic P-value = 0.402, allelic P-value = 0.468 for BD when compared with controls. More...	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
PCNT	pericentrin	21q22.3	1(0/1/0)

SNPs in LD with rs2839224 (count: 34) View in gBrowse (chr21:46337878..46548394 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 34)

rs_ID	Functional Annotation	r²[population]
rs2839232	intron_variant; non_coding_transcript_variant	0.863[CHB]; 0.814[JPT]
rs2839274	intron_variant	0.863[CHB]
rs2839267	intron_variant; non_coding_transcript_variant	0.811[CHB]
rs9306152	intron_variant; non_coding_transcript_variant	0.873[CHB]; 0.821[JPT]
rs4818837	intron_variant; non_coding_transcript_variant	0.87[CHB]
rs2032110	intron_variant	0.863[CHB]
rs11089076	intron_variant; non_coding_transcript_variant	0.809[CHB]
rs4819239	intron_variant; non_coding_transcript_variant	0.883[CHB]
rs1010111		0.811[CHB]
rs8132320	intron_variant; non_coding_transcript_variant	0.863[CHB]
rs2839226	intron_variant; non_coding_transcript_variant; splice_region_variant	1.0[CHB]; 0.881[JPT]
rs9979962	downstream_gene_variant; intron_variant; upstream_gene_variant	0.802[CHB]
rs2839271	downstream_gene_variant; intron_variant	0.803[CHB]
rs7282296	intron_variant	0.811[CHB]
rs7279052	intron_variant; non_coding_transcript_variant	0.931[CHB]
rs2839273	intron_variant	0.81[CHB]
rs4143362	intron_variant	0.811[CHB]
rs17371795	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	0.863[CHB]
rs9979185	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.818[JPT]
rs762251	intron_variant; non_coding_transcript_variant	0.811[CHB]
rs2078203	intron_variant; upstream_gene_variant	0.863[CHB]
rs8134832	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.815[CHB]
rs2330591	intron_variant; non_coding_transcript_variant	0.811[CHB]
rs2839234	intron_variant; non_coding_transcript_variant	0.931[CHB]; 0.814[JPT]
rs3788261	intron_variant; non_coding_transcript_variant	0.815[CHB]; 0.823[JPT]
rs2839283	intron_variant	0.863[CHB]
rs2839240	intron_variant; non_coding_transcript_variant	0.931[CHB]
rs2839292	intron_variant	0.811[CHB]
rs7279193	intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.881[JPT]
rs4819241	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[JPT]
rs2839235	intron_variant; non_coding_transcript_variant	0.931[CHB]; 0.814[JPT]
rs8134014	intron_variant	0.863[CHB]
rs9983528	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[JPT]
rs2839228	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	0.937[CHB]; 0.886[JPT]

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

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