BDgene

SNP Report

Basic Info
Name rs12504300 dbSNP Ensembl
Location chr4:55482360 - 55482360(1)
Variant Alleles G/C
Ancestral Allele G
Minor Allele C
Minor Allele Frequence 0.300319
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000509151, ENST00000513033); intron_variant(ENST00000309964, ENST00000381322, ENST00000435527, ENST00000506747, ENST00000506923, ENST00000513440); non_coding_transcript_variant(ENST00000506747, ENST00000506923); upstream_gene_variant(ENST00000508049)
No. of Studies 2 (Positive: 2; Negative: 0; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Soria, V.,2010 X2-tests: allele P-value = 0.323, Model Recessive...... X2-tests: allele P-value = 0.323, Model Recessive, genotype P-value = 0.03, OR(95%CI)=2.01 (1.08-3.74) More... Significant association was found in BD. Significant association was found in BD. Positive
Kripke, D. F.,2009 C/G TDT: In BP: OR=1.362, CHISQ=7.669, P-value = 0.0056, empiric...... TDT: In BP: OR=1.362, CHISQ=7.669, P-value = 0.0056, empirical P-value = 0.0094, corrected empirical P-value = 0.5775 More... Significant association was observed in the BP group. Significant association was observed in the BP group. Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
CLOCK clock circadian regulator 4q12 12(5/7/0)

SNPs in LD with rs12504300 (count: 24) View in gBrowse (chr4:55401306..55587104 )
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: 24)


Overlap with SZ from cross-disorder studies (count: 0)

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Soria, V.,2010 X2-tests:allele P-value > 0.05, genotype P-value > 0.05 in all model No significant association was observed. Negative