SNP Report

Basic Info

Name	rs1282 dbSNP Ensembl
Location	chr4:8578031 - 8578031(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.135583
Functional Annotation	intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000503448, ENST00000503981); non_coding_transcript_variant(ENST00000503448, ENST00000503981); upstream_gene_variant(ENST00000382487, ENST00000504255, ENST00000509216, ENST00000514302)
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
Yosifova, A.,2009	C/T		Allelic association: P-value = 0.12 Allelic association: P-value = 0.12	No significant association was observed No significant association was observed	Negative
Underwood, S. L., 2006	C/T		chi square allelic P-value = 0.263, OR (95% CI)=1.163 (0.892...... chi square allelic P-value = 0.263, OR (95% CI)=1.163 (0.892-1.516), genotypic P-value = 0.424, OR (95% CI)=1.693 (0.731-3.923) in BPAD; allelic P-value = 0.067, OR (95% CI)=1.233 (0.985-1.543), genotypic P-value = 0.142, OR (95% CI)=1.931 (0.932-4.002) in all cases; allelic P-value = 0.876, OR (95% CI)=1.031 (0.704-1.510), genotypic P-value = 0.989, OR (95% CI)=1.088 (0.337-3.512) in male BPAD; allelic P-value = 0.656, OR (95% CI)=1.070 (0.794-1.444), genotypic P-value = 0.905, OR (95% CI)=1.119 (0.443-2.827) in all male cases; allelic P-value = 0.152, OR (95% CI)=1.314 (0.903-1.911), genotypic P-value = 0.229, OR (95% CI)=2.975 (0.775-11.424) in female BPAD; allelic P-value = 0.035, OR (95% CI)=1.439 (1.025-2.021), genotypic P-value = 0.054, OR (95% CI)=3.976 (1.140-13.871) in all female cases More...	A weaker association was detected in the analysis of all aff...... A weaker association was detected in the analysis of all affected females (allele P=0.035; genotype P=0.054), reflecting a similar trend in the allele and genotype frequencies of the BPAD females as in those of the SCZ females. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
GPR78	G protein-coupled receptor 78	4p16.1	2(2/0/0)

SNPs in LD with rs1282 (count: 0) View in gBrowse (chr4:8578031..8578031 )

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

Reference	Statistical Result	Description	Result Category
Underwood, S. L., 2006	chi square allelic P-value = 0.044, OR (95% CI)=1.300 (1.006-1.679), genotypic P-value = 0.099, OR (95% CI)=2.164 (0.974-4.804) in SCZ; allelic P-value = 0.067, OR (95% CI)=1.233 (0.985-1.543), genotypic P-value = 0.142, OR (95% CI)=1.931 (0.932-4.002) in all cases; allelic P-value = 0.592, OR (95% CI)=1.093 (0.789-1.515), genotypic P-value = 0.862, OR (95% CI)=1.138 (0.415-3.121) in male SCZ; allelic P-value = 0.656, OR (95% CI)=1.070 (0.794-1.444), genotypic P-value = 0.905, OR (95% CI)=1.119 (0.443-2.827) in all male cases; allelic P-value = 0.015, OR (95% CI)=1.688 (1.104-2.581), genotypic P-value = 0.015, OR (95% CI)=5.991 (1.545-23.232) in female SCZ; allelic P-value = 0.035, OR (95% CI)=1.439 (1.025-2.021), genotypic P-value = 0.054, OR (95% CI)=3.976 (1.140-13.871) in all female cases	Marginally significant allelic association was detected between rs1282 (snp2) and SCZ; Only a trend toward significance (P<0.10) was detected between snp2 and SCZ at the genotype level; When restricting the allele and genotype frequency analysis to the female patients, a stronger association was detected between snp2 and SCZ; A weaker association was detected in the analysis of all affected females; The backwards logistic regression approach, where genotypes were declared as the independent variables and the model was adjusted for the effects of sex, confirmed the findings of the single-marker analysis. It identified SNP rs1282 as the only SNP to survive the variable selection and only in the SCZ model.	Positive

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