SNP Report

Basic Info
Name rs386551 dbSNP Ensembl
Location chr19:48635029 - 48635029(1)
Variant Alleles C/G
Ancestral Allele G
Minor Allele C
Minor Allele Frequence 0.411941
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000084798, ENST00000245222, ENST00000340932, ENST00000594088, ENST00000596080, ENST00000597434, ENST00000598088, ENST00000599029, ENST00000599267, ENST00000599748); intron_variant(ENST00000222122, ENST00000601104); non_coding_transcript_exon_variant(ENST00000594723); non_coding_transcript_variant(ENST00000594723); upstream_gene_variant(ENST00000430145, ENST00000474419, ENST00000483163, ENST00000593500, ENST00000599385)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Soria, V.,2010 X2-tests: allele P-value > 0.05, genotype P-value...... X2-tests: allele P-value > 0.05, genotype P-value > 0.05 in all model More... No significant association was observed in BD. No significant association was observed in BD. Negative

SNP related genes (count: 4)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
DBP D site of albumin promoter (albumin D-box) binding protein 19q13.33 3(0/3/0)
CA11 carbonic anhydrase XI 19q13.3 Mapped by Literature SNP
SEC1P secretory blood group 1, pseudogene 19q13.33 Mapped by Literature SNP
SPHK2 sphingosine kinase 2 19q13.33 Mapped by Literature SNP

SNPs in LD with rs386551 (count: 5) View in gBrowse (chr19:48611126..48645524 )
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: 5)

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

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Soria, V.,2010 X2-tests:allele P-value = 0.104, Model Recessive, genotype P-value = 0.011, OR(95%CI)=2.15 (1.18-3.93) Significant association was found. Positive