SNP Report

Basic Info

Name	rs5569 dbSNP Ensembl
Location	chr16:55697923 - 55697923(1)
Variant Alleles	G/A/C
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.233427
Functional Annotation	downstream_gene_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000568529); synonymous_variant(ENST00000219833, ENST00000379906, ENST00000414754, ENST00000561820, ENST00000566163, ENST00000567238, ENST00000568943); upstream_gene_variant(ENST00000574918)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Chang, C. C., 2007	G/A		Fisher's exact test, genotypic P-value = 0.465, X^{2 Fisher's exact test, genotypic P-value = 0.465, X²=1.53, allelic P-value = 0.523, X²=0.409 for Bipolar disorder; genotypic P-value = 0.225, X²=2.984, allelic P-value = 0.32, X²=0.991 for BPD type I; genotypic P-value = 0.81, X²=0.421, allelic P-value = 0.628, X²=0.235 for BPD type II; genotypic P-value = 0.666, X²=0.813, allelic P-value = 0.375, X²=0.786 for BPD early-onset; genotypic P-value = 0.379, X²=1.941, allelic P-value = 0.716, X²=0.132 for BPD late-onset; genotypic P-value = 0.821, X²=0.395, allelic P-value = 0.93, X²=0.008 for BPD with FH; genotypic P-value = 0.364, X²=2.019, allelic P-value = 0.366, X²=0.819 for BPD without FH. Multiple logistic regression (G/A vs.G/G), P-value = 0.75, OR=0.941, 95% CI=0.646-1.370 for BD; P-value = 0.686, OR=0.92, 95% CI=0.614-1.379 for BPD, type I; P-value = 0.88, OR=1.047, 95% CI=0.573-1.915 for BPD, type II; P-value = 0.473, OR=1.264, 95% CI=0.667-2.396 for BPD, early-onset; P-value = 0.44, OR=0.852, 95% CI=0.568-1.279 for BPD, late-onset; P-value = 0.728, OR=0.919, 95% CI=0.572-1.477 for BPD, with FH; P-value = 0.874, OR=0.964, 95% CI=0.617-1.508 for BPD, without FH. Multiple logistic regression (G/A vs.G/G), P-value = 0.264, OR=1.381, 95% CI=0.783-2.433 for BD; P-value = 0.146, OR=1.546, 95% CI=0.859-2.781 for BPD, type I; P-value = 0.681, OR=0.799, 95% CI=0.274-2.332 for BPD, type II; P-value = 0.269, OR=1.712, 95% CI=0.660-4.442 for BPD, early-onset; P-value = 0.363, OR=1.325, 95% CI=0.723-2.428 for BPD, late-onset; P-value = 0.668, OR=1.171, 95% CI=0.570-2.404 for BPD, with FH; P-value = 0.178, OR=1.561, 95% CI=0.816-2.986 for BPD, without FH. More...}	No statistically significant differences were evident for th...... No statistically significant differences were evident for the allele or the genotype frequencies between patients and controls and no association was observed between this SNP and any of the homogenous subtypes; the association between either BPD or its clinical subtypes and the investigated NET polymorphism persisted in its negative association after correction for age and gender by using multiple logistic regression analyses. More...	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
ELK3	ELK3, ETS-domain protein (SRF accessory protein 2)	12q23	1(0/1/0)
SLC6A2	solute carrier family 6 (neurotransmitter transporter), member 2	16q12.2	2(0/2/0)

SNPs in LD with rs5569 (count: 2) View in gBrowse (chr16:55695924..55697923 )

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: 2)

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs12924088		downstream_gene_variant; intron_variant; upstream_gene_variant	0.849[JPT]
rs3785157		downstream_gene_variant; intron_variant; upstream_gene_variant	0.856[JPT]

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

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