BDgene

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.

Literature-origin SNPs (count: 0)

LD-proxies (count: 3)


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