SNP Report

Basic Info

Name	rs12673091 dbSNP Ensembl
Location	chr7:21498449 - 21498449(1)
Variant Alleles	A/G
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.477236
Functional Annotation	intron_variant; NMD_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000222584, ENST00000448246); NMD_transcript_variant(ENST00000448246)
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
Zhou, X.,2009	A/G		Allelic association: Caucasian Families for Bipolar Disorder...... Allelic association: Caucasian Families for Bipolar Disorder: TDT: Risk allele is A, MAF=0.28, P-value = 0.0005; Chinese Case-Controls for Bipolar Disorder: Risk allele is A, MAF=0.13, P-value = 0.002 More...	Significant association was observed in Caucasian Families f...... Significant association was observed in Caucasian Families for Bipolar Disorder and Chinese Case-Controls for Bipolar Disorder . More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
SP4	Sp4 transcription factor	7p15	1(1/0/0)

SNPs in LD with rs12673091 (count: 4) View in gBrowse (chr7:21480514..21499430 )

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]
rs7811539	intron_variant; NMD_transcript_variant	0.974[TSI]; 0.802[CHB]; 0.931[CHD]
rs7790775	intron_variant; NMD_transcript_variant	0.906[CEU]; 0.863[CHB]
rs6461569	intron_variant; NMD_transcript_variant	0.804[TSI]
rs10272006	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.864[CHD]

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Zhou, X.,2009	Allelic association:Chinese Trios for Schizophrenia:TDT:Risk allele is A, MAF=0.111, P-value = 0.012	Significant association was observed	Positive

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