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.

rs_ID	Functional Annotation	r²[population]
rs765646	downstream_gene_variant; upstream_gene_variant	1.0[CHB]
rs1650342		1.0[CHB]
rs1689411	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 1.0[CHD]
rs704074	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	1.0[CHB]
rs1631726	upstream_gene_variant	1.0[CHB]
rs1689437	upstream_gene_variant	1.0[CHB]; 1.0[CHD]
rs704083	non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs1688549		1.0[CHB]
rs704080	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 1.0[CHD]
rs1689406		1.0[CHB]
rs1689410	downstream_gene_variant; upstream_gene_variant	1.0[CHB]
rs1689408		1.0[CHB]; 1.0[CHD]
rs704084		1.0[CHD]
rs1472212		1.0[CHB]

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)