SNP Report

Basic Info

Name	rs2070426 dbSNP Ensembl
Location	chr21:46430570 - 46430570(1)
Variant Alleles	G/C
Ancestral Allele	G
Minor Allele	C
Minor Allele Frequence	0.488219
Functional Annotation	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: possibly damaging(ENST00000359568) SIFT Annotation: tolerated(ENST00000359568)
Consequence to Transcript	missense_variant(ENST00000359568); non_coding_transcript_exon_variant(ENST00000480896); non_coding_transcript_variant(ENST00000480896); upstream_gene_variant(ENST00000482575)
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	C/G		Genotypic P-value = 0.107, allelic P-value = 0.104 for BD wh...... Genotypic P-value = 0.107, allelic P-value = 0.104 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 rs2070426 (count: 29) View in gBrowse (chr21:46342460..46543738 )

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: 29)

rs_ID	Functional Annotation	r²[population]
rs2839285	intron_variant	0.896[CHB]; 1.0[JPT]
rs2070434	intron_variant; non_coding_transcript_variant	0.846[CHB]; 0.937[JPT]
rs2839265	downstream_gene_variant	0.896[CHB]; 1.0[JPT]
rs2839317	intron_variant; non_coding_transcript_variant	0.844[CHB]; 1.0[JPT]
rs2839261	intron_variant; non_coding_transcript_variant	0.95[CHB]; 1.0[JPT]
rs2839270	downstream_gene_variant; intron_variant	0.881[JPT]
rs2839268	intron_variant; non_coding_transcript_variant	0.889[CHB]; 0.926[JPT]
rs2330594	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs2839231	intron_variant; non_coding_transcript_variant	0.901[CHB]
rs2839276	intron_variant	0.901[CHB]; 1.0[JPT]
rs1029262	intron_variant; non_coding_transcript_variant	0.896[CHB]; 1.0[JPT]
rs2839297	intron_variant; upstream_gene_variant	0.901[CHB]; 1.0[JPT]
rs11089068	downstream_gene_variant; intron_variant	0.901[CHB]; 1.0[JPT]
rs11089069	intron_variant	0.947[CHB]; 1.0[JPT]
rs9980536	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.842[CHB]
rs11909560	downstream_gene_variant	0.901[CHB]; 1.0[JPT]
rs7279991	intron_variant	0.896[CHB]; 1.0[JPT]
rs2073374	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs4267585	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.858[CHB]; 1.0[JPT]
rs2839299	intron_variant; non_coding_transcript_variant	0.896[CHB]; 1.0[JPT]
rs3747010	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.901[CHB]; 1.0[JPT]
rs2032111	intron_variant	0.896[CHB]; 1.0[JPT]
rs2839275	intron_variant	0.896[CHB]; 1.0[JPT]
rs2839257	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs12626200	intron_variant	0.823[CHB]; 1.0[JPT]
rs2839243	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[JPT]
rs2839313	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.896[CHB]; 1.0[JPT]
rs1123540	upstream_gene_variant	0.896[CHB]; 1.0[JPT]
rs2073377	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.95[CHB]; 1.0[JPT]

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

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