SNP Report

Basic Info

Name	rs8040868 dbSNP Ensembl
Location	chr15:78618839 - 78618839(1)
Variant Alleles	T/C
Ancestral Allele	C
Minor Allele	C
Minor Allele Frequence	0.328474
Functional Annotation	5_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant.
Consequence to Transcript	5_prime_UTR_variant(ENST00000559080); downstream_gene_variant(ENST00000559941); NMD_transcript_variant(ENST00000559658); non_coding_transcript_exon_variant(ENST00000561128); non_coding_transcript_variant(ENST00000561128); synonymous_variant(ENST00000326828, ENST00000348639, ENST00000559658)
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
Jackson, K. J., 2013	T/C		P-value=0.46, OR=1.03, 95% CI=(0.95-1.11) in BD; P-value=0.0...... P-value=0.46, OR=1.03, 95% CI=(0.95-1.11) in BD; P-value=0.007, OR=1.07, 95% CI=(1.02-1.12) in SZD + BD More...	Two variants, rs8040868 and rs17487223, were significantly a...... Two variants, rs8040868 and rs17487223, were significantly associated with risk for schizophrenia. When the schizophrenia and bipolar disorder results were combined, four markers, rs951266, rs16969968, rs8040868, and rs17487223, were significantly associated with risk for schizophrenia and bipolar disorder. More...	Positive

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 rs8040868 (count: 0) View in gBrowse (chr15:78618839..78618839 )

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

Reference	Statistical Result	Description	Result Category
Jackson, K. J., 2013	P-value=0.004, OR=1.09, 95% CI=(1.03-1.16) in SZD; P-value=0.007, OR=1.07, 95% CI=(1.02-1.12) in SZD + BD; P-value=0.02, OR=1.16, 95% CI=(1.02-1.31) in SZD with the presence of negative symptoms of schizophrenia	Two variants, rs8040868 and rs17487223, were significantly associated with risk for schizophrenia. When the schizophrenia and bipolar disorder results were combined, four markers, rs951266, rs16969968, rs8040868, and rs17487223, were significantly associated with risk for schizophrenia and bipolar disorder. 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)