SNP Report

Basic Info

Name	rs2295814 dbSNP Ensembl
Location	chr10:62811516 - 62811516(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.0750799
Functional Annotation	downstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000242480, ENST00000373783, ENST00000411732, ENST00000439032, ENST00000493899, ENST00000637191, LRG_239t1)
No. of Studies	3 (Positive: 1; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Balan S, 2013	A/G	Pearson's Ï‡2 test, genotypic P-value=0.62, Fisher's exact t...... Pearson's Ï‡2 test, genotypic P-value=0.62, Fisher's exact test, allelic P-value=0.95, OR=0.99, 95% CI=0.81-1.22; meta-analysis, overall effect: Z=0.79, P-value=0.43 for fixed model, Z=0.86, P-value=0.39 for random model More...	There were no significant difference in genotype and allele ...... There were no significant difference in genotype and allele frequencies of EGR2 SNPs between bipolar disorder patients and controls. Themeta-analysis of the two studies also showed no significant association in both random-effects and fixed-effects model, and a high heterogeneity among the studies was observed with I2 values ranging from 47% to 78%. More...	Negative
Gallitano, A. L.,2012		Association analysis: FBAT, P-value > 0.05 Association analysis: FBAT, P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative
Kim, S. H.,2011	G/A	For BD, chi-square tests: allele, OR=1.748, X²=8....... For BD, chi-square tests: allele, OR=1.748, X²=8.9817, P-value = 0.0027, P-value(permutation)=0.0164; Fisher's exact test, genotype, X²=11.8998, P-value = 0.0026 More...	Significant associations were found in both allele and genot...... Significant associations were found in both allele and genotype association. More...	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
EGR2	early growth response 2	10q21.1	3(1/2/0)
ADO	2-aminoethanethiol (cysteamine) dioxygenase	10q21.3	Mapped by Literature SNP

SNPs in LD with rs2295814 (count: 15) View in gBrowse (chr10:62789094..62873148 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Functional Annotation	r²[population]
rs16917747	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs10995336	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs10995317	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.897[JPT]
rs10822061	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs10995340	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs10995321	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.897[JPT]
rs10995337	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs7916322	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs10822074	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs11818583	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs12415752	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs11818600	downstream_gene_variant	1.0[CEU]; 0.904[JPT]
rs10509172	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs10995335	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs11817939	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.897[JPT]

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

Reference	Statistical Result	Description	Result Category
Kim, S. H.,2011	For SZ, chi-square tests:allele, OR=1.451, X²=3.1172, P-value = 0.0775, P-value(permutation)=0.3337;Fisher's exact test, genotype, X²=3.2943, P-value = 0.1926	No significant association was observed.	Negative

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