SNP Report

Basic Info

Name	rs16970287 dbSNP Ensembl
Location	chr15:78935915 - 78935915(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.130391
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000528436, ENST00000534268); intron_variant(ENST00000220166, ENST00000525807, ENST00000528191, ENST00000528741, ENST00000529263, ENST00000529861, ENST00000530010, ENST00000530929, ENST00000533777, ENST00000534038, ENST00000534533, ENST00000615999); NMD_transcript_variant(ENST00000525807, ENST00000529861, ENST00000533777); non_coding_transcript_variant(ENST00000528191, ENST00000529263, ENST00000530010, ENST00000530929, ENST00000534038, ENST00000534533); upstream_gene_variant(ENST00000527138, ENST00000529612, ENST00000534237)
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
Yosifova, A.,2011	A>G		GWAS P-value = 0.00000477, OR(95%CI)=2.75(1.75-4.33); Replic...... GWAS P-value = 0.00000477, OR(95%CI)=2.75(1.75-4.33); Replication P-value = 0.257, OR(95%CI)=1.39(0.82-2.36); Mantel-Haenszel P-value = 0.000027, OR(95%CI)=2.14(1.52-3.00) More...	Suggestive association was found. Suggestive association was found.	Trend

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CTSH	cathepsin H	15q25.1	1(0/0/1)

SNPs in LD with rs16970287 (count: 3) View in gBrowse (chr15:78925289..78936029 )

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]
rs2289697	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs2289695	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]
rs8034542	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]

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

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