SNP Report

Basic Info

Name	rs130005 dbSNP Ensembl
Location	chr16:3778347 - 3778347(1)
Variant Alleles	A/G
Ancestral Allele	A
Minor Allele	G
Minor Allele Frequence	0.109625
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000635753, ENST00000636002); intron_variant(ENST00000262367, ENST00000382070, ENST00000570939, ENST00000572134, ENST00000634839); non_coding_transcript_variant(ENST00000634839); upstream_gene_variant(ENST00000571826, ENST00000575237)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Crisafulli, C.,2012	A/G		Association analysis: genotype P-value = 0.75, chi square=1....... Association analysis: genotype P-value = 0.75, chi square=1.95; allele P-value = 0.63, chi square=0.92 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CREBBP	CREB binding protein	16p13.3	1(0/1/0)

SNPs in LD with rs130005 (count: 3) View in gBrowse (chr16:3778347..3874936 )

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]
rs11644593	intron_variant; non_coding_transcript_variant	0.846[CHB]; 0.834[CHD]; 0.943[JPT]
rs2239318	intron_variant	0.833[JPT]
rs130052	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.947[CHB]; 0.83[CHD]; 0.943[JPT]

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

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

Reference	Statistical Result	Description	Result Category
Crisafulli, C.,2012	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative