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)