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.

Literature-origin SNPs (count: 0)

LD-proxies (count: 5)

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)