SNP Report

Basic Info

Name	rs258813 dbSNP Ensembl
Location	chr5:143295125 - 143295125(1)
Variant Alleles	G/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.23123
Functional Annotation	intron_variant.
Consequence to Transcript	intron_variant(ENST00000231509, ENST00000343796, ENST00000394464, ENST00000394466, ENST00000415690, ENST00000424646, ENST00000503201, ENST00000504572)
No. of Studies	3 (Positive: 0; Negative: 3; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Szczepankiewicz, A.,2011	A/G	For BD, X² test: allele, P-value > 0.05; the Fish...... For BD, X² test: allele, P-value > 0.05; the Fisher exact test: genotype, P-value > 0.05; for the course of bipolar disorder: genotype P-value = 0.148 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative
Leszczynska-Rodziewicz A, 2013	A/G	P-value=0.17 P-value=0.17	Neither genotypes nor alleles were significantly associated ...... Neither genotypes nor alleles were significantly associated with melancholic depression. More...	Negative
Leszczynska-Rodziewicz, A., 2012	A/G	genotypic P-value = 0.61 genotypic P-value = 0.61	There were no significant differences for other polymorphism...... There were no significant differences for other polymorphisms in the studied group in comparison to the control group. More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
NR3C1	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	5q31-q32	5(2/3/0)

SNPs in LD with rs258813 (count: 12) View in gBrowse (chr5:143242611..143381962 )

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]
rs2963149	intron_variant; non_coding_transcript_variant	0.917[CEU]; 0.949[TSI]
rs2918417	intron_variant; non_coding_transcript_variant	0.917[CEU]; 0.975[TSI]
rs190488	intron_variant	0.874[CEU]
rs258754		0.835[CEU]; 0.898[TSI]
rs852977	intron_variant; non_coding_transcript_variant	0.874[CEU]; 0.949[TSI]
rs6188	intron_variant; non_coding_transcript_variant	0.917[CEU]; 0.975[TSI]
rs258755		0.835[CEU]; 0.849[TSI]
rs860457	intron_variant; non_coding_transcript_variant	0.874[CEU]; 0.923[TSI]
rs258753		0.835[CEU]; 0.875[TSI]
rs852982	intron_variant; non_coding_transcript_variant	0.917[CEU]; 0.975[TSI]
rs1837262	intron_variant; non_coding_transcript_variant	0.87[CEU]; 0.946[TSI]
rs2918416	intron_variant; non_coding_transcript_variant	0.874[CEU]; 0.975[TSI]

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

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

Reference	Statistical Result	Description	Result Category
Szczepankiewicz, A.,2011	X² test:allele, P-value > 0.05;the Fisher exact test:genotype, P-value > 0.05	No significant association was observed.	Negative