SNP Report

Basic Info

Name	rs135757 dbSNP Ensembl
Location	chr22:38307648 - 38307648(1)
Variant Alleles	A/G
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.395367
Functional Annotation	intron_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000359867, ENST00000396832, ENST00000400206, ENST00000403904, ENST00000405675, ENST00000413574, ENST00000430335); upstream_gene_variant(ENST00000451964, ENST00000612795)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Matsunaga, S.,2012	A/G		Chi square test:MAF = 0.22,P-value = 0.74,OR = 0.98 Chi square test:MAF = 0.22,P-value = 0.74,OR = 0.98	No significant association was observed. No significant association was observed.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CSNK1E	casein kinase 1, epsilon	22q13.1	5(1/3/1)

SNPs in LD with rs135757 (count: 2) View in gBrowse (chr22:38294692..38312399 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs135763		intron_variant	0.823[JPT]
rs2075983		downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	0.934[CHB]; 0.946[CHD]; 0.823[JPT]

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

Reference	Statistical Result	Description	Result Category
Matsunaga, S.,2012	Chi square test:MAF = 0.22,P-value = 0.67,OR = 0.97	No significant association was observed.	Negative

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

Reference	Statistical Result	Description	Result Category
Matsunaga, S.,2012	Chi square test:MAF = 0.22,P-value = 0.57,OR = 0.95	No significant association was observed.	Negative