BDgene

SNP Report

Basic Info
Name rs2249057 dbSNP Ensembl
Location chr21:46353189 - 46353189(1)
Variant Alleles C/A/T
Ancestral Allele C
Minor Allele A
Minor Allele Frequence 0.289537
Functional Annotation downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant.
Consequence to Transcript downstream_gene_variant(ENST00000490468); non_coding_transcript_exon_variant(ENST00000466474, ENST00000480896, ENST00000483844); non_coding_transcript_variant(ENST00000466474, ENST00000480896, ENST00000483844); synonymous_variant(ENST00000359568)
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
Anitha, A., 2008 C/A Genotypic P-value = 0.932, allelic P-value = 0.985 for BD wh...... Genotypic P-value = 0.932, allelic P-value = 0.985 for BD when compared with controls. More... none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
PCNT pericentrin 21q22.3 1(0/1/0)

SNPs in LD with rs2249057 (count: 30) View in gBrowse (chr21:46346736..46536449 )
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: 30)


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

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

Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback Acknowledgements
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Last update: March 31, 2016