SNP Report

Basic Info

Name	rs129974 dbSNP Ensembl
Location	chr16:3745291 - 3745291(1)
Variant Alleles	G/A/T
Ancestral Allele	G
Minor Allele	T
Minor Allele Frequence	0.0776757
Functional Annotation	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000638158); non_coding_transcript_exon_variant(ENST00000572569); non_coding_transcript_variant(ENST00000572569); synonymous_variant(ENST00000262367, ENST00000382070, ENST00000570939, ENST00000573517); upstream_gene_variant(ENST00000574740, ENST00000576720, ENST00000635919)
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	G/T		Association analysis: genotype P-value = 0.73, chi square=2....... Association analysis: genotype P-value = 0.73, chi square=2.03; allele P-value = 0.83, chi square=0.36 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 rs129974 (count: 25) View in gBrowse (chr16:3734355..3883344 )

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

Literature-origin SNPs (count: 0)

LD-proxies (count: 25)

rs_ID	Functional Annotation	r²[population]
rs7202140	intron_variant	1.0[CHB]; 0.834[CHD]
rs12051375	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CHB]; 0.824[CHD]; 1.0[JPT]
rs129962	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.924[CHB]
rs9938319	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.928[CHB]
rs129982	intron_variant; upstream_gene_variant	1.0[CHB]; 0.894[CHD]; 1.0[JPT]
rs2380332	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.864[JPT]
rs129984	intron_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs2526691	intron_variant	1.0[CHB]
rs130016	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.928[CHB]; 0.928[CHD]; 1.0[JPT]
rs130032	intron_variant; upstream_gene_variant	0.857[CHB]; 0.855[CHD]; 1.0[JPT]
rs129976	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.928[CHD]
rs129993	intron_variant	1.0[CHB]; 1.0[JPT]
rs12103371	downstream_gene_variant; intron_variant	1.0[CHB]; 0.85[CHD]
rs3025684	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; splice_region_variant; upstream_gene_variant	1.0[CHB]; 1.0[CHD]
rs7186874	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.928[CHB]; 0.86[CHD]
rs129964	intron_variant	1.0[CHB]; 0.92[CHD]; 1.0[JPT]
rs3789027	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.857[CHB]; 1.0[JPT]
rs129966	intron_variant; non_coding_transcript_variant	1.0[CHB]
rs9302779	upstream_gene_variant	0.927[CHB]; 0.846[JPT]
rs129967	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.928[CHB]; 0.928[CHD]
rs130051	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.857[CHB]; 0.886[CHD]; 0.846[JPT]
rs129992	intron_variant	1.0[CHB]; 1.0[JPT]
rs8052927	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.928[CHB]; 0.886[CHD]
rs9931922	downstream_gene_variant; intron_variant	1.0[CHB]; 0.817[CHD]; 1.0[JPT]
rs130002	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CHB]; 1.0[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