BDgene

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.

Literature-origin SNPs (count: 0)

LD-proxies (count: 1)


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

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