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rs2073380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2073380(A;C)
Make rs2073380(C;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position46443844
GenePCNT
is asnp
is mentioned by
dbSNPrs2073380
ebirs2073380
HLIrs2073380
Exacrs2073380
Varsomers2073380
Maprs2073380
PheGenIrs2073380
hapmaprs2073380
1000 genomesrs2073380
hgdprs2073380
ensemblrs2073380
gopubmedrs2073380
geneviewrs2073380
scholarrs2073380
googlers2073380
pharmgkbrs2073380
gwascentralrs2073380
openSNPrs2073380
23andMers2073380
23andMe allrs2073380
SNP Nexus

SNPshotrs2073380
SNPdbers2073380
MSV3drs2073380
GWAS Ctlgrs2073380
GMAF0.2346
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 19448849OA-icon.png] Positive association of the pericentrin (PCNT) gene with major depressive disorder in the Japanese population


[PMID 19191256] Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ), with schizophrenia and with bipolar disorder


GET Evidence
PCNT-R3245S
aa_change Arg3245Ser
aa_change_short R3245S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.168154
summary



ClinVar
Risk rs2073380(C;C)
Alt rs2073380(C;C)
Reference rs2073380(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PCNT
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.47863757A>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000147250.1,