BDgene

SNP Report

Basic Info
Name rs7954758 dbSNP Ensembl
Location chr12:71942014 - 71942014(1)
Variant Alleles A/G
Ancestral Allele A
Minor Allele G
Minor Allele Frequence 0.141374
Functional Annotation intron_variant; non_coding_transcript_variant.
Consequence to Transcript intron_variant(ENST00000333850, ENST00000546576); non_coding_transcript_variant(ENST00000546576)
No. of Studies 3 (Positive: 2; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Grigoroiu-Serbanescu, M.,2008 A/G Cochrane-Armitage trend test P value=0.624 Cochrane-Armitage trend test P value=0.624 Negative
Gao, J., 2016 Fixed effect model: P-value=0.0044, OR=1.3597, 95%CI=1.1008...... Fixed effect model: P-value=0.0044, OR=1.3597, 95%CI=1.1008-1.6795; Random effects model: P-value=0.0887, OR=1.316, 95%CI=0.9592- 1.8068; More... For rs7954758, three studies including 1081 BD patients and ...... For rs7954758, three studies including 1081 BD patients and 1480 controlswere included. All ethnic groups yielded a fixed effect summary OR of 1.36, without statistically significant between-study heterogeneity, while the random summary OR was 1.32 showed borderline statistical significance though it demonstrated a relatively poor association of rs7954758 with BD. It appeared that rs11178998 and rs4760820 had strong epidemiological credibility, while rs7954758 had relatively weak association due to significant between-study heterogeneity and failure to reach statistical significance in the random effective model. More... Positive
Cichon, S., 2008 A/G G Cochrane-Armitage trend test P-value = 0.0039 , OR (95% CI)=...... Cochrane-Armitage trend test P-value = 0.0039 , OR (95% CI)=1.5 (1.1-1.9) in the German BPAD sample. Cochrane-Armitage trend test P-value = 0.0668 , OR (95% CI)=1.6 (0.96-2.6) in the Russian BPAD sample. Cochrane-Armitage trend test P-value = 0.0006 , OR (95% CI)=1.5 (1.2-1.9) in Combined German/Russian sample. More... In the German sample, the minor alleles of SNPs rs11178997, ...... In the German sample, the minor alleles of SNPs rs11178997, rs11178998 and rs7954758 were significantly over-represented in BPAD patients when compared with controls. In the Russian replication sample, the three SNPs in the 5' region showed a non-signific. More... Positive

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 rs7954758 (count: 16) View in gBrowse (chr12:71867975..71944865 )
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: 16)


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

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