SNP Report

Basic Info

Name	rs2230944 dbSNP Ensembl
Location	chr12:124336867 - 124336867(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.0583067
Functional Annotation	downstream_gene_variant; missense_variant; upstream_gene_variant. Polyphen Annotation: benign(ENST00000356219, ENST00000404121, ENST00000404621, ENST00000405201, ENST00000429285) SIFT Annotation: tolerated - low confidence(ENST00000404621, ENST00000405201, ENST00000429285); tolerated(ENST00000356219, ENST00000404121)
Consequence to Transcript	downstream_gene_variant(ENST00000440187, ENST00000453428, ENST00000622851); missense_variant(ENST00000356219, ENST00000404121, ENST00000404621, ENST00000405201, ENST00000429285); upstream_gene_variant(ENST00000418829, ENST00000440337, ENST00000443451, ENST00000461081, ENST00000474079)
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
Shink, E.,2005(b)	P2004S		Allelic analysis: T1 P-value = 1.000, OR (95% CI)=0.96(0.41-...... Allelic analysis: T1 P-value = 1.000, OR (95% CI)=0.96(0.41-2.24); genotypic analysis: T1 P-value = 1, T3 P-value = 1 More...	No significant association was observed. No significant association was observed.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
NCOR2	nuclear receptor corepressor 2	12q24	1(0/1/0)

SNPs in LD with rs2230944 (count: 1) View in gBrowse (chr12:124336867..124452057 )

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

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs12580372		intron_variant	1.0[CEU]

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

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