SNP Report

Basic Info

Name	rs2463169 dbSNP Ensembl
Location	chr12:79685268 - 79685268(1)
Variant Alleles	G/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.41254
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000547016, ENST00000548426, ENST00000552637); intron_variant(ENST00000328827, ENST00000547571, ENST00000550006, ENST00000551712); non_coding_transcript_variant(ENST00000547571, ENST00000550006); upstream_gene_variant(ENST00000551995)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Kishi, T., 2008 (a)	G > A		Hardy-Weinberg equilibrium P value=0.744, genotypic P value=...... Hardy-Weinberg equilibrium P value=0.744, genotypic P value=0.317, allelic P value=0.502 for bipolor disorder compared with controls. More...		Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
PAWR	PRKC, apoptosis, WT1, regulator	12q21.2	1(0/1/0)

SNPs in LD with rs2463169 (count: 10) View in gBrowse (chr12:79505922..79716673 )

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]
rs7975389	upstream_gene_variant	0.84[CHB]; 0.93[JPT]
rs11114157		0.856[JPT]
rs2542811	intron_variant; non_coding_transcript_variant	0.84[CHB]
rs7968442	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs7310151		1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs10746138	upstream_gene_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs7971769	downstream_gene_variant	1.0[CHB]; 0.974[CHD]; 1.0[JPT]
rs7297808	downstream_gene_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs2307220	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs3789994	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]

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

Reference	Statistical Result	Description	Result Category
Kishi, T., 2008 (a)	Hardy-Weinberg equilibrium P value=0.329, genotypic P value=0.872, allelic P value=0.517 for schizophrenia compared with controls.	No association was detected with schizophrenia or MDD in allele/genotype-wise analyses.	Negative

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

Reference	Statistical Result	Description	Result Category
Kishi, T., 2008 (a)	Hardy-Weinberg equilibrium P value=0.225, genotypic P value=0.402, allelic P value=0.608 for MDD compared with controls.	No association was detected with schizophrenia or MDD in allele/genotype-wise analyses.	Negative