SNP Report

Basic Info

Name	rs217520 dbSNP Ensembl
Location	chr6:108172145 - 108172145(1)
Variant Alleles	C/A
Ancestral Allele	A
Minor Allele	C
Minor Allele Frequence	0.324681
Functional Annotation	intron_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000368983, ENST00000368986, ENST00000426403); upstream_gene_variant(ENST00000484978)
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
Kumar, R. A., 2008	A/C	A	X²=6.11, OR (95% CI)=0.77 (0.62-0.95), uncorrecte...... X²=6.11, OR (95% CI)=0.77 (0.62-0.95), uncorrected P-value = 0.013, permuted P-value = 0.036 for bipolar disorder (I and II combined). X²=5.89, OR (95% CI)=0.77 (0.62-0.96), uncorrected P-value = 0.015, permuted P-value = 0.041 for bipolar I disorder. X²=1.54, OR (95% CI)=0.73 (0.43-1.24), uncorrected P-value = 0.215 for bipolar II disorder. More...	We found a significant association between rs217520 and bipo...... We found a significant association between rs217520 and bipolar disorder (I and II combined) but not with any of the other four SNPs. We examined bipolar I disorder and bipolar II disorder separately and found evidence of a significant association between the same marker, rs217520, for bipolar I disorder but not for bipolar II disorder. However, the lack of association with bipolar II disorder could be due to the small sample size in this group. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
NR2E1	nuclear receptor subfamily 2, group E, member 1	6q21	1(1/0/0)

SNPs in LD with rs217520 (count: 5) View in gBrowse (chr6:108168258..108179437 )

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]
rs383319	intron_variant; upstream_gene_variant	0.887[CEU]; 0.876[TSI]
rs385029	intron_variant; upstream_gene_variant	0.851[CEU]
rs217529	downstream_gene_variant; intron_variant	0.821[CEU]
rs2233492	intron_variant; upstream_gene_variant	0.821[CEU]
rs217526	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CEU]; 0.975[TSI]

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

Reference	Statistical Result	Description	Result Category
Kumar, R. A., 2008	X²=2.26, OR (95% CI)=0.85 (0.69-1.06), P-value = 0.133 for SZ.	No association was detected with schizophrenia.	Negative

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