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rs2452600

From SNPedia

Orientationplus
Stabilizedplus
Make rs2452600(C;C)
Make rs2452600(C;T)
Make rs2452600(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position94575731
GenePDLIM5
is asnp
is mentioned by
dbSNPrs2452600
ebirs2452600
HLIrs2452600
Exacrs2452600
Varsomers2452600
Maprs2452600
PheGenIrs2452600
hapmaprs2452600
1000 genomesrs2452600
hgdprs2452600
ensemblrs2452600
gopubmedrs2452600
geneviewrs2452600
scholarrs2452600
googlers2452600
pharmgkbrs2452600
gwascentralrs2452600
openSNPrs2452600
23andMers2452600
23andMe allrs2452600
SNP Nexus

SNPshotrs2452600
SNPdbers2452600
MSV3drs2452600
GWAS Ctlgrs2452600
GMAF0.2755
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene PDLIM5
allele T
frequency 0.25
sift AFFECT FUNCTION
HuRef 1103654486690
Disease Association May play a role in genetic susceptibility to schizophrenia. PDLIM5 is commonly increased in the brain of patients with bipolar disorder, schizophrenia, and major depression.



[PMID 18197271OA-icon.png] A major single nucleotide polymorphism of the PDLIM5 gene associated with recurrent major depressive disorder.


[PMID 19139070OA-icon.png] Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.


GET Evidence
PDLIM5-S136F
aa_change Ser136Phe
aa_change_short S136F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.249303
summary