BDgene

SNP Report

Basic Info
Name rs45551636 dbSNP Ensembl
Location chr16:23622972 - 23622972(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.00858626
Functional Annotation downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_variant; upstream_gene_variant.
Polyphen Annotation: probably damaging(ENST00000261584, ENST00000568219, LRG_308t1)
SIFT Annotation: deleterious(ENST00000261584, ENST00000568219, LRG_308t1)
Consequence to Transcript downstream_gene_variant(ENST00000565038); intron_variant(ENST00000561764); missense_variant(ENST00000261584, ENST00000568219, LRG_308t1); non_coding_transcript_variant(ENST00000561764); upstream_gene_variant(ENST00000566069)
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/T GERP=5.84 GERP=5.84 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)
PALB2 partner and localizer of BRCA2 16p12.1 5(2/2/1)

SNPs in LD with rs45551636 (count: 0) View in gBrowse (chr16:23622972..23622972 )

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

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