BDgene

SNP Report

Basic Info
Name rs138880 dbSNP Ensembl
Location chr22:49824963 - 49824963(1)
Variant Alleles A/C
Ancestral Allele C
Minor Allele C
Minor Allele Frequence 0.394369
Functional Annotation intron_variant; upstream_gene_variant.
Consequence to Transcript intron_variant(ENST00000404034, ENST00000404760); upstream_gene_variant(ENST00000216267, ENST00000438393, ENST00000457780, ENST00000459821, ENST00000494833)
No. of Studies 3 (Positive: 1; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Severinsen, J. E., 2006 (b) A/C P-value = 0.0274 in BD, P-value = 0.0046 in BD and SZ P-value = 0.0274 in BD, P-value = 0.0046 in BD and SZ Significant single-marker associations were observed for two...... Significant single-marker associations were observed for two BRD1 SNPs. More... Positive
Yosifova, A.,2009 A/C Allelic association: P-value = 0.38 Allelic association: P-value = 0.38 No significant association was observed No significant association was observed Negative
Nyegaard, M., 2010 A/C None of the 11 Sequenom SNPs showed association with BPD. None of the 11 Sequenom SNPs showed association with BPD. Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
BRD1 bromodomain containing 1 22q13.33 2(2/0/0)

SNPs in LD with rs138880 (count: 43) View in gBrowse (chr22:49784434..49927975 )
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: 43)


Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Nyegaard, M., 2010 P-value = 0.45, OR=1.09 in UK/DK sample Nominal significant association with SZ Positive
Severinsen, J. E., 2006 (b) P-value = 0.0061 in SZ, P-value = 0.0046 in BD and SZ The promoter SNP rs138880 showed association in SZ and the combined case group. Positive

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