BDgene

SNP Report

Basic Info
Name rs704076 dbSNP Ensembl
Location chr12:89350144 - 89350144(1)
Variant Alleles C/A
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.217252
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000548755); intron_variant(ENST00000279488, ENST00000308385, ENST00000547140, ENST00000547291); non_coding_transcript_variant(ENST00000547140); upstream_gene_variant(ENST00000611513)
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) G/T chi-square P-value = 0.0088, Permutation P-value = 0.0287, X...... chi-square P-value = 0.0088, Permutation P-value = 0.0287, X2=6.8557, OR=2.153; chi-square P-value = 0.0004, Permutation P-value = 0.0007, X2=12.6608, OR=4.436 for female subjects, chi-square P-value = 0.5159, Permutation P-value = 0.9253, X2=0.422, OR=0.7282 for male subjects More... showed nominally significant association with BD, and the em...... showed nominally significant association with BD, and the empirical P-value with 10, 000 permutations for each SNP was also significant. 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 rs704076 (count: 6) 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: 6)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Kim, S. H., 2012 (a) chi-square P-value = 0.6096, Permutation P-value = 0.9485, X2=0.2607, OR=1.205; chi-square P-value = 0.4105, Permutation P-value = 0.8111, X2=0.6775, OR=1.648 for female subjects, chi-square P-value = 0.8973, Permutation P-value = 1, X2=0.0167, OR=0.9427 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)