SNP Report

Basic Info

Name	rs2353552 dbSNP Ensembl
Location	chr4:2208338 - 2208338(1)
Variant Alleles	C/A
Ancestral Allele	C
Minor Allele	A
Minor Allele Frequence	0.0439297
Functional Annotation	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: benign(ENST00000382865, ENST00000511885) SIFT Annotation: tolerated(ENST00000382865, ENST00000511885)
Consequence to Transcript	missense_variant(ENST00000382865, ENST00000511885); non_coding_transcript_exon_variant(ENST00000506518, ENST00000515357); non_coding_transcript_variant(ENST00000506518, ENST00000515357); upstream_gene_variant(ENST00000514858)
No. of Studies	1 (Positive: 0; Negative: 0; Trend: 1)
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
Georgi, B., 2014	C/A		GERP=20.11 GERP=20.11	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
POLN	polymerase (DNA directed) nu	4p16.3	1(0/0/1)

SNPs in LD with rs2353552 (count: 1) View in gBrowse (chr4:2072799..2208338 )

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]
rs588341		downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.812[CEU]

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

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