BDgene

SNP Report

Basic Info
Name rs1051730 dbSNP Ensembl
Location chr15:78601997 - 78601997(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.168131
Functional Annotation NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript NMD_transcript_variant(ENST00000559658); non_coding_transcript_exon_variant(ENST00000558903); non_coding_transcript_variant(ENST00000558903); synonymous_variant(ENST00000326828, ENST00000348639, ENST00000559658); upstream_gene_variant(ENST00000624172)
No. of Studies 2 (Positive: 0; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Jackson, K. J., 2013 G/A P-value=0.24, OR=1.05, 95% CI=(0.97-1.13) in BD; P-value=0.0...... P-value=0.24, OR=1.05, 95% CI=(0.97-1.13) in BD; P-value=0.08, OR=1.05, 95% CI=(0.99-1.1) in SZD + BD More... No significant association was found. No significant association was found. Negative
Hartz, S. M.,2011 X2 test: for nicotine dependence with and without...... X2 test: for nicotine dependence with and without bipolar disorder, allele P-value = 0.99; logistic regression: for BD case-control, P-value = 0.27, OR=0.92, 95% CI=0.8-1.1, when smoking as a covariate, P-value = 0.37, OR=0.93, for non-smokers only, P-value = 0.21, OR=0.87 More... No significant association was observed. No significant association was observed. Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) 15q24 3(1/2/0)

SNPs in LD with rs1051730 (count: 0) View in gBrowse (chr15:78601997..78601997 )

Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Jackson, K. J., 2013 P-value=0.19, OR=1.05, 95% CI=(0.97-1.13) in SZD; P-value=0.08, OR=1.05, 95% CI=(0.99-1.1) in SZD + BD; P-value=0.019, OR=1.19, 95% CI=(1.03-1.37) in SZD with the presence of negative symptoms of schizophrenia A meta-analysis of the results revealed a significant association with the variants rs951266, rs1051730, rs8040868, and rs1748722, and the presence of negative symptoms. Positive

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