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.

rs_ID	Functional Annotation	r²[population]
rs7249417	downstream_gene_variant; intron_variant	0.946[CEU]
rs550455	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]
rs447802	downstream_gene_variant; missense_variant	1.0[CEU]
rs10426317	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs3094287	5_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.854[CEU]

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