SNP Report

Basic Info

Name	rs1800067 dbSNP Ensembl
Location	chr16:13935176 - 13935176(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.0285543
Functional Annotation	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: probably damaging(ENST00000311895, LRG_463t1) SIFT Annotation: deleterious(ENST00000311895, LRG_463t1)
Consequence to Transcript	downstream_gene_variant(ENST00000574194, ENST00000574781, ENST00000575156); intron_variant(ENST00000570663); missense_variant(ENST00000311895, LRG_463t1); non_coding_transcript_exon_variant(ENST00000389138, ENST00000573018, ENST00000575137); non_coding_transcript_variant(ENST00000389138, ENST00000570663, ENST00000573018, ENST00000575137); upstream_gene_variant(ENST00000462862)
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	G/A		GERP=5.77 GERP=5.77	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)
ERCC4	excision repair cross-complementation group 4	16p13.3	1(0/0/1)

SNPs in LD with rs1800067 (count: 1) View in gBrowse (chr16:13921720..13935176 )

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]
rs3136055		downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.808[TSI]

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

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