BDgene

SNP Report

Basic Info
Name rs808820 dbSNP Ensembl
Location chr12:89351049 - 89351049(1)
Variant Alleles A/G
Ancestral Allele G
Minor Allele G
Minor Allele Frequence 0.111821
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; start_lost.
Polyphen Annotation: benign(ENST00000547291)
SIFT Annotation: deleterious - low confidence(ENST00000547291)
Consequence to Transcript downstream_gene_variant(ENST00000548755); intron_variant(ENST00000279488, ENST00000308385, ENST00000547140); non_coding_transcript_exon_variant(ENST00000611513); non_coding_transcript_variant(ENST00000547140, ENST00000611513); start_lost(ENST00000547291)
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
Kim, S. H., 2012 (a) A/G chi-square P-value = 0.0517, Permutation P-value = 0.1731, X...... chi-square P-value = 0.0517, Permutation P-value = 0.1731, X2=3.7846, OR=1.911; chi-square P-value = 0.0068, Permutation P-value = 0.0217, X2=7.3133, OR=3.633 for female subjects, chi-square P-value = 0.6973, Permutation P-value = 0.9947, X2=0.1513, OR=0.813 for male subjects More... showed nominally significant allelic associations with BD, b...... showed nominally significant allelic associations with BD, but not with SPR, in female patients More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
DUSP6 dual specificity phosphatase 6 12q22-q23 5(3/2/0)

SNPs in LD with rs808820 (count: 14) View in gBrowse (chr12:89348954..89384460 )
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: 14)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Kim, S. H., 2012 (a) chi-square P-value = 0.9126, Permutation P-value = 0.9994, X2=0.0121, OR=1.047; chi-square P-value = 0.4866, Permutation P-value = 0.9137, X2=0.4841, OR=1.595 for female subjects, chi-square P-value = 0.6207, Permutation P-value = 0.9726, X2=0.2448, OR=0.7687 for male subjects showed nominally significant allelic associations with BD, but not with SPR, in female patients Negative

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