SNP Report

Basic Info

Name	rs7275294 dbSNP Ensembl
Location	chr21:40075009 - 40075009(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.0537141
Functional Annotation	intron_variant.
Consequence to Transcript	intron_variant(ENST00000400454, ENST00000404019, ENST00000617870)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Amano, K., 2008	T/C		Genotypic P-value = 0.7990, allelic P-value = 0.7490 for BD ...... Genotypic P-value = 0.7990, allelic P-value = 0.7490 for BD when compared with controls More...	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
DSCAM	Down syndrome cell adhesion molecule	21q22.2-q22.3	3(1/2/0)

SNPs in LD with rs7275294 (count: 4) View in gBrowse (chr21:40046281..40075009 )

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]
rs11911000	intron_variant	1.0[CEU]; 0.895[TSI]; 0.864[CHB]; 0.946[CHD]; 1.0[JPT]
rs9647185	intron_variant	0.848[CEU]; 0.895[TSI]; 0.864[CHB]; 1.0[JPT]
rs2142123	intron_variant	0.848[CEU]; 0.895[TSI]; 1.0[JPT]
rs2142122	intron_variant	0.848[CEU]; 1.0[JPT]

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

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