SNP Report

Basic Info

Name	rs228697 dbSNP Ensembl
Location	chr1:7827519 - 7827519(1)
Variant Alleles	C/G
Ancestral Allele	C
Minor Allele	G
Minor Allele Frequence	0.0603035
Functional Annotation	missense_variant; upstream_gene_variant. Polyphen Annotation: benign(ENST00000614998, ENST00000361923, ENST00000377532, ENST00000613533) SIFT Annotation: tolerated(ENST00000361923, ENST00000377532, ENST00000613533); deleterious(ENST00000614998)
Consequence to Transcript	missense_variant(ENST00000614998, ENST00000361923, ENST00000377532, ENST00000613533); upstream_gene_variant(ENST00000451646)
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
Yosifova, A.,2009	C/G		Allelic association: P-value = 0.46 Allelic association: P-value = 0.46	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)
PER3	period circadian clock 3	1p36.23	7(3/4/0)

SNPs in LD with rs228697 (count: 5) View in gBrowse (chr1:7792057..7837168 )

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]
rs228654	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs228689	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs228657	intron_variant; upstream_gene_variant	1.0[CEU]
rs228690	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs170631	downstream_gene_variant; intron_variant	1.0[CEU]

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

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