BDgene

SNP Report

Basic Info
Name rs4792887 dbSNP Ensembl
Location chrCHR_HSCHR17_2_CTG5:45811268 - 45811268(1)
Variant Alleles T/C
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.129992
Functional Annotation intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Consequence to Transcript intron_variant(ENST00000293493, ENST00000314537, ENST00000339069, ENST00000347197, ENST00000352855, ENST00000398285, ENST00000577353, ENST00000582766, ENST00000587305, ENST00000619154, ENST00000634540); NMD_transcript_variant(ENST00000347197); non_coding_transcript_exon_variant(ENST00000634876); non_coding_transcript_variant(ENST00000582766, ENST00000587305, ENST00000634876, ENST00000611599, ENST00000613260, ENST00000614143, ENST00000615345, ENST00000617446, ENST00000618382, ENST00000616225, ENST00000616274, ENST00000616748, ENST00000617905, ENST00000618144, ENST00000621969, ENST00000631500, ENST00000632383, ENST00000632599, ENST00000633723, ENST00000634181, ENST00000632383, ENST00000631500, ENST00000632599, ENST00000634181)
No. of Studies 4 (Positive: 0; Negative: 4; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 4)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Szczepankiewicz, A., 2013 C/T allelic P-value=0.201, genotypic P-value=0.266, OR=1.631, 95...... allelic P-value=0.201, genotypic P-value=0.266, OR=1.631, 95% CI=0.665-1.080 for affective disorder; allelic P-value=0.244, genotypic P-value=0.371, OR=0.841, 95% CI=0.644-1.108 for BD More... No significant association was observed. No significant association was observed. Negative
Leszczynska-Rodziewicz, A., 2012 C/T genotypic P-value = 0.45 genotypic P-value = 0.45 There were no significant differences for other polymorphism...... There were no significant differences for other polymorphisms in the studied group in comparison to the control group. More... Negative
Leszczynska-Rodziewicz A, 2013 C/T P-value=0.90 P-value=0.90 Neither genotypes nor alleles were significantly associated ...... Neither genotypes nor alleles were significantly associated with melancholic depression. More... Negative
Ceulemans, S.,2011 T/C Single SNP analyses: Permuted P-value = 0.4973, Odds Ratio=0...... Single SNP analyses: Permuted P-value = 0.4973, Odds Ratio=0.8741 More... No significant association was observed. No significant association was observed. Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
MAPT-AS1 MAPT antisense RNA 1 17q21.31 Mapped by Literature SNP
CRHR1 corticotropin releasing hormone receptor 1 17q21.31 4(2/2/0)

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: 6)


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

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Szczepankiewicz, A., 2013 allelic P-value=0.201, genotypic P-value=0.266, OR=1.631, 95% CI=0.665-1.080 for affective disorder; allelic P-value=0.431, genotypic P-value=0.443, OR=0.853, 95% CI=0.598-1.218 for MDD No significant association was observed. Negative