BDgene

SNP Report

Basic Info
Name rs381523 dbSNP Ensembl
Location chr22:21951257 - 21951257(1)
Variant Alleles A/G
Ancestral Allele G
Minor Allele G
Minor Allele Frequence 0.429113
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Consequence to Transcript downstream_gene_variant(ENST00000497072); intron_variant(ENST00000263212, ENST00000397495); non_coding_transcript_exon_variant(ENST00000458178); non_coding_transcript_variant(ENST00000458178)
No. of Studies 1 (Positive: 1; Negative: 0; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Andreassen OA, 2013 A/G Conditional FDR; SCZ loci given BD:: FDR=0.038 for SCZ and B...... Conditional FDR; SCZ loci given BD:: FDR=0.038 for SCZ and BD||Conjunction FDR; pleiotropic loci in SCZ and BD: P-value=0.00128, FDR=0.66028, FDR=0.04536 for BD and SCZ||Conjunction FDR; pleiotropic loci in SCZ and BD: FDR=0.045 for BD and SZ, Z-score=3.22 for BD More... To estimate the number of independent loci, we 'pruned' the ...... To estimate the number of independent loci, we 'pruned' the associated SNPs (removed SNPs with linkage disequilibrium (LD)>0.2), and identified a total of 58 independent loci with a significance threshold of conditional FDR<0.63. This SNP is with conditional FDR<0.05 in schizophrenia given association with bipolar disorder after 'pruning'. This SNP is with conjunction FDR<0.14 with schizophrenia and bipolar disorder considered jointly. More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
PPM1F protein phosphatase, Mg2+/Mn2+ dependent, 1F 22q11.22 Mapped by Literature SNP

SNPs in LD with rs381523 (count: 0) View in gBrowse (chr22:21951257..21951257 )

Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Andreassen OA, 2013 Conditional FDR; SCZ loci given BD: P-value=0.00155, FDR=0.56, FDR=0.038 for SCZ and BD||Conjunction FDR; pleiotropic loci in SCZ and BD: FDR=0.04536 for BD and SCZ||Conjunction FDR; pleiotropic loci in SCZ and BD: FDR=0.045 for BD and SZ, Z-score=3.166 for SZ To estimate the number of independent loci, we 'pruned' the associated SNPs (removed SNPs with linkage disequilibrium (LD)>0.2), and identified a total of 58 independent loci with a significance threshold of conditional FDR<0.63. This SNP is with conditional FDR<0.05 in schizophrenia given association with bipolar disorder after 'pruning'. This SNP is with conjunction FDR<0.14 with schizophrenia and bipolar disorder considered jointly. Positive

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