BDgene

SNP Report

Basic Info
Name rs2239848 dbSNP Ensembl
Location chr22:49823106 - 49823106(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.141174
Functional Annotation NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant.
Consequence to Transcript NMD_transcript_variant(ENST00000438393); non_coding_transcript_exon_variant(ENST00000459821, ENST00000494833); non_coding_transcript_variant(ENST00000459821, ENST00000494833); synonymous_variant(ENST00000216267, ENST00000404034, ENST00000404760, ENST00000438393, ENST00000457780)
No. of Studies 2 (Positive: 0; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Severinsen, J. E., 2006 (b) G/A P-value = 0.2501 in BD, P-value = 0.3983 in BD and SZ P-value = 0.2501 in BD, P-value = 0.3983 in BD and SZ Negative
Nyegaard, M., 2010 G/A 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 rs2239848 (count: 1) View in gBrowse (chr22:49775557..49823106 )
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: 2)
Reference Statistical Result Description Result Category
Nyegaard, M., 2010 P-value = 0.8, OR=0.9 in UK/DK sample Nominal significant association with SZ Positive
Severinsen, J. E., 2006 (b) P-value = 1 in SZ, P-value = 0.3983 in BD and SZ Negative

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