BDgene

SNP Report

Basic Info
Name rs520570 dbSNP Ensembl
Location chr6:73288093 - 73288093(1)
Variant Alleles A/T
Minor Allele A
Minor Allele Frequence 0.0573083
Functional Annotation intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript intron_variant(ENST00000370384, ENST00000421315, ENST00000441363, ENST00000474593, ENST00000484801); non_coding_transcript_variant(ENST00000421315, ENST00000441363, ENST00000474593, ENST00000484801); upstream_gene_variant(ENST00000433978, ENST00000439695)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Xu, W., 2014 T/A P-value=6.25E-05 P-value=6.25E-05 Top 132 SNPs (showing suggestive association to BD in our CA...... Top 132 SNPs (showing suggestive association to BD in our CAMH family cohort: p<0.0001). More... Negative

SNP related genes (count: 3)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
EIF3EP1 eukaryotic translation initiation factor 3, subunit E pseudogene 1 6q13 Mapped by Literature SNP
RPSAP41 ribosomal protein SA pseudogene 41 6q13 Mapped by Literature SNP
KHDC1 KH homology domain containing 1 6q13 1(0/1/0)

SNPs in LD with rs520570 (count: 10) View in gBrowse (chr6:73145887..73409361 )
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: 10)


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

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