SNP Report

Basic Info

Name	rs4842318 dbSNP Ensembl
Location	chr12:79650387 - 79650387(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.403954
Functional Annotation	intron_variant; non_coding_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000328827, ENST00000550006, ENST00000551712); non_coding_transcript_variant(ENST00000550006)
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)	C > T		Hardy-Weinberg equilibrium P value=0.167, genotypic P value=...... Hardy-Weinberg equilibrium P value=0.167, genotypic P value=0.128, allelic P value=0.0396 for bipolor disorder compared with controls, corrected P-value = 0.158 More...	showed a significant association with BP in a genotype-wise ...... showed a significant association with BP in a genotype-wise analysis. Nevertheless, this significance may be a result of type I error due to multiple testing. 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 rs4842318 (count: 3) View in gBrowse (chr12:79557786..79694798 )

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]
rs4842266	upstream_gene_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs4842316	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs12827748	intron_variant; non_coding_transcript_variant; upstream_gene_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=0.388, genotypic P value=0.822, allelic P value=0.161 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=0.897, genotypic P value=0.726, allelic P value=0.439 for MDD compared with controls.	No association was detected with schizophrenia or MDD in allele/genotype-wise analyses.	Negative