SNP Report

Basic Info

Name	rs16969968 dbSNP Ensembl
Location	chr15:78590583 - 78590583(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.149561
Functional Annotation	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: benign(ENST00000299565) SIFT Annotation: tolerated(ENST00000299565)
Consequence to Transcript	downstream_gene_variant(ENST00000326828, ENST00000348639, ENST00000559002, ENST00000559658); intron_variant(ENST00000394802, ENST00000559554, ENST00000559576); missense_variant(ENST00000299565); non_coding_transcript_exon_variant(ENST00000567141); non_coding_transcript_variant(ENST00000567141)
No. of Studies	2 (Positive: 1; Negative: 1; 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
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 = 0.97; logistic regression: for BD case-control, P-value = 0.36, OR=0.93, 95% CI=0.8-1.1, when smoking as a covariate, P-value = 0.36, 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
Jackson, K. J., 2013	G/A		P-value=0.23, OR=1.05, 95% CI=(0.97-1.13) in BD; P-value=0.0...... P-value=0.23, OR=1.05, 95% CI=(0.97-1.13) in BD; P-value=0.04, OR=1.06, 95% CI=(1-1.11) in SZD + BD More...	When the schizophrenia and bipolar disorder results were com...... 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: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CHRNA5	cholinergic receptor, nicotinic, alpha 5 (neuronal)	15q24	3(2/1/0)
CHRNA3	cholinergic receptor, nicotinic, alpha 3 (neuronal)	15q24	3(1/2/0)

SNPs in LD with rs16969968 (count: 0) View in gBrowse (chr15:78590583..78590583 )

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

Reference	Statistical Result	Description	Result Category
Jackson, K. J., 2013	P-value=0.09, OR=1.06, 95% CI=(0.97-1.13) in SZD; P-value=0.04, OR=1.06, 95% CI=(1-1.11) in SZD + BD; P-value=0.07, OR=1.15, 95% CI=(0.99-1.34) in SZD with the presence of negative symptoms of 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.	Positive

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