SNP Report

Basic Info

Name	rs2953145 dbSNP Ensembl
Location	chr2:240576179 - 240576179(1)
Variant Alleles	G/C
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.178115
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000460884, ENST00000498042); intron_variant(ENST00000270357, ENST00000437406, ENST00000451363, ENST00000464550, ENST00000471657, ENST00000486058, ENST00000493398); non_coding_transcript_exon_variant(ENST00000481757); non_coding_transcript_variant(ENST00000464550, ENST00000471657, ENST00000481757, ENST00000486058, ENST00000493398)
No. of Studies	1 (Positive: 0; Negative: 0; Trend: 1)
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
The Wellcome Trust Case Control Consortium, 2007	C/G	C	Genotypic P-value = 6.57E-06; Heterozygote OR (95%CI)=1.84 ...... Genotypic P-value = 6.57E-06; Heterozygote OR (95%CI)=1.84 (1.31-2.58); Homozygote OR (95%CI)=2.14 (1.53-2.98) More...	showing moderate evidence of association with BD showing moderate evidence of association with BD	Trend

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
RNPEPL1	arginyl aminopeptidase (aminopeptidase B)-like 1	2q37.3	2(1/0/1)

SNPs in LD with rs2953145 (count: 2) View in gBrowse (chr2:240576179..240579572 )

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]
rs2975748		3_prime_UTR_variant; downstream_gene_variant	0.947[CEU]; 1.0[TSI]
rs2953177		downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[TSI]

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

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