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.

Literature-origin SNPs (count: 0)

LD-proxies (count: 1)

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

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