SNP Report

Basic Info

Name	rs17110563 dbSNP Ensembl
Location	chr12:71972526 - 71972526(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	3.99361E-4
Functional Annotation	missense_variant. Polyphen Annotation: possibly damaging(ENST00000333850) SIFT Annotation: deleterious(ENST00000333850)
Consequence to Transcript	missense_variant(ENST00000333850)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Cichon, S., 2008	C/T	T	Cochrane-Armitage trend test P-value = 0.0066 , OR (95% CI)=...... Cochrane-Armitage trend test P-value = 0.0066 , OR (95% CI)=5.1 (1.4-18.8) in the German BPAD sample. Cochrane-Armitage trend test P-value = 0.21 , OR (95% CI)=3.7 (0.4-33.5) in the Russian BPAD sample. Cochrane-Armitage trend test P-value = 0.0024 , OR (95% CI)=4.8 (1.6-14.8) in Combined German/Russian sample. More...	In the German sample, SNP rs17110563 also showed association...... In the German sample, SNP rs17110563 also showed association: nine out of 636 BPAD patients were heterozygous for Pro206Ser, compared with only three out of 1070 controls. More...	Positive
Grigoroiu-Serbanescu, M.,2008	C/T		Cochrane-Armitage trend test P value=0.341 Cochrane-Armitage trend test P value=0.341		Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
TPH2	tryptophan hydroxylase 2	12q15	13(10/3/0)

SNPs in LD with rs17110563 (count: 1) View in gBrowse (chr12:71972526..71994480 )

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]
rs2887147		missense_variant	1.0[CEU]

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

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