BDgene

SNP Report

Basic Info
Name rs1012053 dbSNP Ensembl
Location chr13:42079301 - 42079301(1)
Variant Alleles C/A
Ancestral Allele A
Minor Allele C
Minor Allele Frequence 0.229233
Functional Annotation intron_variant.
Consequence to Transcript intron_variant(ENST00000261491, ENST00000337343, ENST00000379274)
No. of Studies 6 (Positive: 1; Negative: 5; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 6)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Baum, A. E., 2008 (b) A Random effects P-value = 0.044; DerSimonian-Laird (random e...... Random effects P-value = 0.044; DerSimonian-Laird (random effects) OR (95% CI)=1.38 (1.01, 1.89) More... Negative
Yosifova, A.,2009 A/C Allelic association: P-value = 0.74 Allelic association: P-value = 0.74 No significant association was observed No significant association was observed Negative
Takata, A.,2011(a) A/C Fisher's exact test: allele P-value = 0.9169, genotype P-val...... Fisher's exact test: allele P-value = 0.9169, genotype P-value = 0.8578 More... No significant association was observed in BD. No significant association was observed in BD. Negative
Squassina, A.,2009 A Alelle association: P-value = 0.881permutation P-value = 1 Alelle association: P-value = 0.881permutation P-value = 1 No significant association was observed No significant association was observed Negative
Zeng, Z.,2011 A Allelic association: P-value = 0.191, permutated P-value = 0...... Allelic association: P-value = 0.191, permutated P-value = 0.829 for BPD; P-value = 0.15, permutated P-value = 0.739 for BPDI More... No significant association was observed in BD. No significant association was observed in BD. Negative
Baum, A. E., 2008 (a) A P-value = 0.0002 when genotyped individually in the test sam...... P-value = 0.0002 when genotyped individually in the test sample (NIMH); P-value = 1.5E-05 when individually genotyped in the Replication sample (German); P-value = 1.5E-08 in the combined dataset. OR (95% CI)=1.59 (1.35-1.87) More... significant at the P < 0.05 level in both samples. This SNP ...... significant at the P < 0.05 level in both samples. This SNP is significant at the experiment-wide P < 0.01 after Bonferroni correction of the combined results for the total number of SNPs studied. More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
DGKH diacylglycerol kinase, eta 13q13.3 6(3/3/0)

SNPs in LD with rs1012053 (count: 13) View in gBrowse (chr13:42069058..42127805 )
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: 13)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Zeng, Z.,2011 Allelic association:P-value = 0.074, permutated P-value = 0.494 for SCZ No significant association was observed after permutation. Negative

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Zeng, Z.,2011 Allelic association:P-value > 0.05 for MDD. No significant association was observed after permutation. Negative