SNP Report

Basic Info

Name	rs2242446 dbSNP Ensembl
Location	chr16:55656513 - 55656513(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	C
Minor Allele Frequence	0.247005
Functional Annotation	5_prime_UTR_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript	5_prime_UTR_variant(ENST00000379906); intron_variant(ENST00000414754, ENST00000568529, ENST00000568655, ENST00000568943); upstream_gene_variant(ENST00000219833, ENST00000561820, ENST00000566163)
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	T/C		Fisher's exact test, genotypic P-value = 0.861, X^{2 Fisher's exact test, genotypic P-value = 0.861, X²=0.299, allelic P-value = 0.792, X²=0.069 for Bipolar disorder; genotypic P-value = 0.97, X²=0.061, allelic P-value = 0.993, X²=0 for BPD type I; genotypic P-value = 0.659, X²=0.91, allelic P-value = 0.472, X²=0.518 for BPD type II; genotypic P-value = 0.905, X²=0.2, allelic P-value = 0.662, X²=0.192 for BPD early-onset; genotypic P-value = 0.849, X²=0.327, allelic P-value = 0.909, X²=0.013 for BPD late-onset; genotypic P-value = 0.808, X²=0.426, allelic P-value = 0.914, X²=0.012 for BPD with FH; genotypic P-value = 0.867, X²=0.286, allelic P-value = 0.617, X²=0.25 for BPD without FH. Multiple logistic regression (T/C vs. T/T), P-value = 0.796, OR=1.05, 95% CI=0.727-1.515 for BD; P-value = 0.781, OR=1.058, 95% CI=0.713-1.569 for BPD, type I; P-value = 0.985, OR=0.994, 95% CI=0.551-1.796 for BPD, type II; P-value = 0.859, OR=1.058, 95% CI=0.569-1.965 for BPD, early-onset; P-value = 0.76, OR=1.064, 95% CI=0.716-1.580 for BPD, late-onset; Multiple logistic regression, P-value = 0.552, OR=1.151, 95% CI=0.724-1.829 for BPD, with FH; P-value = 0.815, OR=0.95, 95% CI=0.617-1.463 for BPD, without FH; Multiple logistic regression (C/C vs.T/T), P-value = 0.564, OR=0.822, 95% CI=0.423-1.598 for BD; P-value = 0.825, OR=0.925, 95% CI=0.461-1.855 for BPD, type I; P-value = 0.411, OR=0.577, 95% CI=0.156-2.139 for BPD, type II; P-value = 0.833, OR=1.132, 95% CI=0.358-3.578 for BPD, early-onset; P-value = 0.554, OR=0.804, 95% CI=0.391-1.654 for BPD, late-onset; P-value = 0.84, OR=0.916, 95% CI=0.390-2.149 for BPD, with FH; P-value = 0.475, OR=0.748, 95% CI=0.337-1.659 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 rs2242446 (count: 4) View in gBrowse (chr16:55656513..55666515 )

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: 4)

rs_ID	Functional Annotation	r²[population]
rs17247999	intron_variant	0.948[CHB]; 1.0[JPT]
rs17307291	intron_variant	1.0[CHB]; 0.974[CHD]; 1.0[JPT]
rs747107	intron_variant	0.949[CHB]; 1.0[JPT]
rs11076111	intron_variant	1.0[CHB]; 1.0[JPT]

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

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