SNP Report

Basic Info

Name	rs4131348 dbSNP Ensembl
Location	chr12:71930699 - 71930699(1)
Variant Alleles	T/C
Ancestral Allele	T
Minor Allele	C
Minor Allele Frequence	0.180711
Functional Annotation	downstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000550746)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Yosifova, A.,2009	C/T		Allelic association: P-value = 0.14 Allelic association: P-value = 0.14	No significant association was observed No significant association was observed	Negative
Van Den Bogaert, A., 2006 (a)	C/T		genotypic P-value = 0.004, allelic P-value = 0.004 genotypic P-value = 0.004, allelic P-value = 0.004	In the sample of patients with BP disorder and controls, sig...... In the sample of patients with BP disorder and controls, significant association was observed because of a decrease of the C allele of rs4131348 in the patients with BP disorder, from 21.9% to 14.6% (P=.004). More...	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
TBC1D15	TBC1 domain family, member 15	12q15	Mapped by Literature SNP
TPH2	tryptophan hydroxylase 2	12q15	13(10/3/0)

SNPs in LD with rs4131348 (count: 3) View in gBrowse (chr12:71930054..71933242 )

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]
rs17110451	downstream_gene_variant	0.913[CEU]
rs3935748	downstream_gene_variant	1.0[CEU]; 0.921[TSI]
rs17110459		1.0[CEU]; 0.959[TSI]

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

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Van Den Bogaert, A., 2006 (a)	genotypic P-value = 0.54, allelic P-value = 0.54		Negative