BDgene

SNP Report

Basic Info
Name rs12936511 dbSNP Ensembl
Location chrCHR_HSCHR17_2_CTG5:45818655 - 45818655(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.0167732
Functional Annotation 5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript 5_prime_UTR_variant(ENST00000339069, ENST00000634540); intron_variant(ENST00000634876); NMD_transcript_variant(ENST00000347197); non_coding_transcript_exon_variant(ENST00000582766, ENST00000587305); non_coding_transcript_variant(ENST00000582766, ENST00000587305, ENST00000634876); synonymous_variant(ENST00000293493, ENST00000314537, ENST00000347197, ENST00000352855, ENST00000398285, ENST00000577353, ENST00000619154); upstream_gene_variant(ENST00000580955, ENST00000611599, ENST00000613260, ENST00000614143, ENST00000615345, ENST00000617446, ENST00000618382, ENST00000621969, ENST00000632383, ENST00000631500, ENST00000632599, ENST00000634181, ENST00000631500, ENST00000632599, ENST00000634181, ENST00000616225, ENST00000616274, ENST00000616748, ENST00000617905, ENST00000618144, ENST00000632383, ENST00000633723, ENST00000632552)
No. of Studies 2 (Positive: 0; Negative: 2; 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
Leszczynska-Rodziewicz A, 2013 C/T P-value=0.40 P-value=0.40 Neither genotypes nor alleles were significantly associated ...... Neither genotypes nor alleles were significantly associated with melancholic depression. More... Negative
Szczepankiewicz, A., 2013 C/T allelic P-value=0.362, genotypic P-value=0.269, OR=0.828, 95...... allelic P-value=0.362, genotypic P-value=0.269, OR=0.828, 95% CI=0.603-1.180 for affective disorder; allelic P-value=0.301, genotypic P-value=0.151, OR=0.801, 95% CI=0.544-1.166 for BD 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)

SNPs in LD with rs12936511 (count: 0) View in gBrowse (chrCHR_HSCHR17_2_CTG5:45818655..45818655 )

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=0.362, genotypic P-value=0.269, OR=0.828, 95% CI=0.603-1.180 for affective disorder; allelic P-value=0.904, genotypic P-value=0.962, OR=0.947, 95% CI=0.587-1.526 for MDD No significant association was observed. Negative