BDgene

SNP Report

Basic Info
Name rs173365 dbSNP Ensembl
Location chrCHR_HSCHR17_2_CTG5:45835327 - 45835327(1)
Variant Alleles G/A
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.348043
Functional Annotation intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript intron_variant(ENST00000293493, ENST00000314537, ENST00000339069, ENST00000347197, ENST00000352855, ENST00000398285, ENST00000577353, ENST00000580955, ENST00000582766, ENST00000583888, ENST00000619154, ENST00000634540, ENST00000634876); NMD_transcript_variant(ENST00000347197, ENST00000580955, ENST00000583888); non_coding_transcript_variant(ENST00000582766, ENST00000634876, ENST00000611599, ENST00000613260, ENST00000614143, ENST00000615345, ENST00000617446, ENST00000618382, ENST00000616225, ENST00000616274, ENST00000616748, ENST00000617905, ENST00000618144, ENST00000621969, ENST00000631395, ENST00000632383, ENST00000632552, ENST00000633723, ENST00000634181, ENST00000631395, ENST00000632383, ENST00000632552, ENST00000634181)
No. of Studies 3 (Positive: 0; Negative: 3; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Leszczynska-Rodziewicz, A., 2012 A/G genotypic P-value = 0.88 genotypic P-value = 0.88 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 A/G P-value=0.60 P-value=0.60 Neither genotypes nor alleles were significantly associated ...... Neither genotypes nor alleles were significantly associated with melancholic depression. More... Negative
Szczepankiewicz, A., 2013 A/G allelic P-value=0.845, genotypic P-value=0.834, OR=1.018, 95...... allelic P-value=0.845, genotypic P-value=0.834, OR=1.018, 95% CI=0.877-1.180 for affective disorder; allelic P-value=0.888, genotypic P-value=0.972, OR=0.984, 95% CI=0.835-1.161 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)

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: 1)


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=0.845, genotypic P-value=0.834, OR=1.018, 95% CI=0.877-1.180 for affective disorder; allelic P-value=0.476, genotypic P-value=0.469, OR=1.088, 95% CI=0.876-1.350 for MDD No significant association was observed. Negative