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rs1012053

From SNPedia

Bipolar I Disorder
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.5 Normal (higher) risk of Bipolar Disorder.
(A;C) 2 0.625x reduced risk of Bipolar Disorder.
(C;C) 2.1 0.39x reduced risk of Bipolar Disorder.
ReferenceGRCh38 38.1/141
Chromosome13
Position42079301
GeneDGKH
is asnp
is mentioned by
dbSNPrs1012053
ebirs1012053
Exacrs1012053
Maprs1012053
PheGenIrs1012053
hapmaprs1012053
1000 genomesrs1012053
hgdprs1012053
ensemblrs1012053
gopubmedrs1012053
geneviewrs1012053
scholarrs1012053
googlers1012053
pharmgkbrs1012053
gwascentralrs1012053
openSNPrs1012053
23andMers1012053
23andMe allrs1012053
SNP Nexus

SNPshotrs1012053
SNPdbers1012053
MSV3drs1012053
GWAS Ctlgrs1012053
GMAF0.2548
Max Magnitude2.1
? (A;A) (A;C) (C;C) 28

Bipolar disorder failed to replicate in 10.1371/journal.pone.0023473

GWAS
SNP rs1012053
PubMedID [PMID 17486107OA-icon.png]
Condition Bipolar disorder
Gene DGKH
Risk Allele A
pValue 2.00E-008
OR 1.59
95% CI 1.35-1.87



[PMID 21771265] Genome wide association study on bipolar disorder in the Bulgarian population


[PMID 18421293OA-icon.png] Meta-analysis of two genome-wide association studies of bipolar disorder reveals important points of agreement.


[PMID 19416921OA-icon.png] Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.


[PMID 19818381] Interacting genes in lithium prophylaxis: preliminary results of an exploratory analysis on the role of DGKH and NR1D1 gene polymorphisms in 199 Sardinian bipolar patients.


[PMID 22048461OA-icon.png] Effect of variation in diacylglycerol kinase eta (DGKH) gene on brain function in a cohort at familial risk of bipolar disorder.


GET Evidence
rs1012053
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.822581
summary