BDgene

SNP Report

Basic Info
Name rs2391191 dbSNP Ensembl
Location chr13:105467097 - 105467097(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.361821
Functional Annotation 5_prime_UTR_variant; downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000375936, ENST00000473269, ENST00000601240, ENST00000618629); unknown(ENST00000489237)
SIFT Annotation: deleterious - low confidence(ENST00000375936, ENST00000473269, ENST00000601240, ENST00000618629, ENST00000489237)
Consequence to Transcript 5_prime_UTR_variant(ENST00000329625, ENST00000488534, ENST00000559369, ENST00000595812, ENST00000600388); downstream_gene_variant(ENST00000610818); intron_variant(ENST00000448407); missense_variant(ENST00000375936, ENST00000473269, ENST00000601240, ENST00000618629, ENST00000489237); NMD_transcript_variant(ENST00000473269, ENST00000601240, ENST00000488534, ENST00000559369, ENST00000595812, ENST00000600388, ENST00000489237); non_coding_transcript_variant(ENST00000448407); upstream_gene_variant(ENST00000471432)
No. of Studies 18 (Positive: 3; Negative: 15; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 18)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Tan, J., 2014 A/G A vs. G: OR= 1.00; 95% CI= 0.95–1.07; P-value= 0.831 A vs. G: OR= 1.00; 95% CI= 0.95–1.07; P-value= 0.831 We did not obtain a significant association between M15 and ...... We did not obtain a significant association between M15 and BD. The combined samples revealed no significant heterogeneity. More... Negative
Schulze, T. G.,2005 G/A G For German group : All Patients With Bipolar Affective Disor...... For German group : All Patients With Bipolar Affective Disorder, P-value > 0.05 , OR=0.86, 95CI=0.91-1.47.Patients With a History of Psychotic Symptoms, P-value > 0.05 , OR=0.87, 95CI=0.66-1.15. Patients With No History of Psychotic Symptoms, P-value > 0.05 , OR=0.83, 95CI=0.58-1.19 More... No significant association was observed. No significant association was observed. Negative
Gaysina, D.,2010 A/G chi-squared tests: allele P-value = 0.31 for UK sample; alle...... chi-squared tests: allele P-value = 0.31 for UK sample; allele P-value = 0.73 for Canadian sample. More... No significant association was observed in BD. No significant association was observed in BD. Negative
Hattori, E.,2003 A/G A Association analysis: for CNG pedigrees, TDT P-value = 0.08,...... Association analysis: for CNG pedigrees, TDT P-value = 0.08, Transmission Ratio=0.84; for NIMH pedigrees, TDT P-value = 0.39, Transmission Ratio=0.57 More... No significant association was observed in BD. No significant association was observed in BD. Negative
Zhang, Z.,2009(a) A/G Allelic association: Odds ratio (95% CI)=1.12(0.93-1.34), P-...... Allelic association: Odds ratio (95% CI)=1.12(0.93-1.34), P-value = 0.224 More... No significant association was observed No significant association was observed Negative
Grigoroiu-Serbanescu, M.,2010 G/A Allelic association analysis: for non-psychotic patients, P-...... Allelic association analysis: for non-psychotic patients, P-value = 0.043, OR(95%CI)=1.82(1.01-3.28); for psychotic patients, P-value = 0.517, OR(95%CI)=0.9(0.66-1.24) More... Significant association was found in non-psychotic BP-I pati...... Significant association was found in non-psychotic BP-I patients. More... Positive
Soronen, P.,2011 A/G For BD, allele, P-value = 0.1474 For BD, allele, P-value = 0.1474 No significant association was observed. No significant association was observed. Negative
Hukic, D. S.,2013 A/C BP1 CMS vs. ABD controls: P-value = 0.02,empirical p-value =...... BP1 CMS vs. ABD controls: P-value = 0.02,empirical p-value =0.019,empirical p-value2 = 0.21,OR[95%CI] = 0.75[0.63–1.0] More... Significant association was observed. Significant association was observed. Positive
Muller, D. J.,2011 G/A FBAT: for total sample, variance of the S-statistic=64.1, Z-...... FBAT: for total sample, variance of the S-statistic=64.1, Z-score=1.39, P-value = 0.17; for European sample, variance of the S-statistic=59.9, Z-score=1.52, P-value = 0.13; for BD patients with psychotic symptoms, variance of the S-statistic=30, Z-score=0.55, P-value = 0.58; for BD patients without psychotic symptoms, variance of the S-statistic=21.5, Z-score=0.43, P-value = 0.67; Meta analysis: Fixed-effects model: ORA = 1.04, 95% confidence interval (CI): 0.97-1.11, p = 0.25; Random-effects model: ORA = 1.05, 95% CI: 0.97-1.12, p = 0.22. More... No significant association was observed. No significant association was observed. Negative
Maheshwari, M.,2009 A/G TDT: Raw TDT P-value = 0.111, Adaptive permutation corrected...... TDT: Raw TDT P-value = 0.111, Adaptive permutation corrected P-value = 0.875 More... No significant allelic association with BP was found No significant allelic association with BP was found Negative
Bass, N. J.,2009 A/G chi-squared tests: for BP, allele, X2(1 d.f.)=1.4...... chi-squared tests: for BP, allele, X2(1 d.f.)=1.468, P-value = 0.226 More... No significant association was observed. No significant association was observed. Negative
Schumacher, J.,2004 G/A Association analysis: allele P-value = 0.222, OR=1.16, genot...... Association analysis: allele P-value = 0.222, OR=1.16, genotype P-value = 0.269, OR=1.48 More... No significant association was observed in BD. No significant association was observed in BD. Negative
Williams, N. M., 2006 allelic P-value = 0.09, Gene-wide test P-value = 0.045 in Bi...... allelic P-value = 0.09, Gene-wide test P-value = 0.045 in Bipolar I Disorder More... We observed significant evidence for whole-gene association ...... We observed significant evidence for whole-gene association (P=.04). More... Negative
Shi, J., 2008 (a) G OR (95% CI)=0.95 (0.75-1.22) , Z test P-value = 0.71 for Eu...... OR (95% CI)=0.95 (0.75-1.22) , Z test P-value = 0.71 for European samples. More... No single maker showed evidence of overall association with ...... No single maker showed evidence of overall association with BP. More... Negative
Chen, Y. S.,2004 G/A Single-marker association results: Likelihood ratio statisti...... Single-marker association results: Likelihood ratio statistic is 1.1067, P-value > 0.05, OR=1.22 More... No significant association was observed in BD. No significant association was observed in BD. Negative
Detera-Wadleigh, S. D., 2006 A/G Fisher P-value = 0.0000 for all, P-value = 0.2513 for BP Onl...... Fisher P-value = 0.0000 for all, P-value = 0.2513 for BP Only More... When results are combined across studies and phenotypes, thi...... When results are combined across studies and phenotypes, this marker showed significant combined p value More... Positive
Gawlik, M.,2010 A/G Armitage's trend test: P-value = 0.72 Armitage's trend test: P-value = 0.72 No significant association was observed in BD. No significant association was observed in BD. Negative
Prata, D., 2008 data not shown data not shown Analysis of each SNP individually showed no significant asso...... Analysis of each SNP individually showed no significant association. More... Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
DAOA-AS1 DAOA antisense RNA 1 13q33.2 Mapped by Literature SNP
DAOA D-amino acid oxidase activator 13q33.2 21(13/7/1)

SNPs in LD with rs2391191 (count: 15) View in gBrowse (chr13:105448044..105480370 )
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: 15)


Overlap with SZ from cross-disorder studies (count: 7)
Reference Statistical Result Description Result Category
Schumacher, J.,2004 Association analysis:allele P-value = 0.037, OR=1.28, genotype P-value = 0.108, OR=1.41 Significant associations were found in SZ patients. Positive
Muller, D. J.,2011 Meta analysis:Fixed-effects model:ORA = 1.03, 95% CI: 1.00-1.07, p = 0.07;Random-effects model: ORA = 1.05, 95% CI:0.97-1.13, p = 0.22.But in the East Asian subgroup (p = 0.02). Significant association was observed in the East Asian subgroup. Positive
Shi, J., 2008 (a) OR (95% CI)=0.95 (0.86-1.04), Z test P-value = 0.25 for all samples; OR (95% CI)=0.88 (0.76-1.01), Z test P-value = 0.07 for Asian; OR (95% CI)=0.98 (0.88-1.10), Z test P-value = 0.77 for European. No association was detected with schizophrenia in allelic association studies. Negative
Tan, J., 2014 A vs. G: OR=0.99, 95% CI= 0.94–1.05, P-value= 0.829; AA+AG vs. GG: OR=0.99, 95% CI= 0.91–1.08, P-value= 0.825; AA vs. AG+GG: OR= 1.01, 95% CI = 0.98–1.17, P-value= 0.806; AA vs. AG: OR = 1.01, 95% CI = 0.94–1.08, p = 0.764; AG vs. GG: OR = 0.99, 95% CI = 0.94–1.06, P-value= 0.872; AA vs. GG: OR>= 0.98, 95% CI= 0.87–1.11, P-value= 0.768. The pooled ORs failed to indicate thatM15 was significantly associated with an increased risk of SCZ in six models Negative
Williams, N. M., 2006 allelic P-value = 0.27 in Schizophrenia We found no evidence for allelic or genotypic association with any of the polymorphisms studied for schizophrenia. We observed nominally significant evidence (P=.01-.047) for allelic association with 3 of the polymorphisms for bipolar disorder and significant evidence for whole-gene association (P=.04). Negative
Bass, N. J.,2009 chi-squared tests:for SCZ, allele, X2(1 d.f.)=0.521, P-value = 0.47 No significant association was observed. Negative
Detera-Wadleigh, S. D., 2006 Fisher P-value = 0 for all, P-value = 0.0006 for SCZ Only When results are combined across studies and phenotypes, this marker showed significant combined p value. Combined results in schizophrenia are significant for several markers and are highly significant (p<0.001) for three markers spanning more than 82 kb. Positive

Overlap with MDD from cross-disorder studies (count: 3)
Reference Statistical Result Description Result Category
Gawlik, M.,2010 Armitage's trend test:P-value = 0.13 No significant association was observed. Negative
Tan, J., 2014 A vs. G: OR = 0.98; 95% CI = 0.77–1.24; P-value = 0.855 No significant association was found between M15 and DD. Negative
Soronen, P.,2011 For MDD, allele, P-value = 0.12;For Mood, allele, P-value = 0.0465, OR=0.8524, P-value(perm)=0.888 No significant association was observed. Negative