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rs12434716

From SNPedia

Orientationplus
Stabilizedplus
Make rs12434716(C;C)
Make rs12434716(C;G)
Make rs12434716(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position33799961
GeneNPAS3
is asnp
is mentioned by
dbSNPrs12434716
ebirs12434716
HLIrs12434716
Exacrs12434716
Varsomers12434716
Maprs12434716
PheGenIrs12434716
hapmaprs12434716
1000 genomesrs12434716
hgdprs12434716
ensemblrs12434716
gopubmedrs12434716
geneviewrs12434716
scholarrs12434716
googlers12434716
pharmgkbrs12434716
gwascentralrs12434716
openSNPrs12434716
23andMers12434716
23andMe allrs12434716
SNP Nexus

SNPshotrs12434716
SNPdbers12434716
MSV3drs12434716
GWAS Ctlgrs12434716
GMAF0.1322
Max Magnitude
? (C;C) (C;G) (G;G) 28

[PMID 20466522] Association of NPAS3 exonic variation with schizophrenia


Venter snp
Source plos
Gene NPAS3
allele C
frequency
sift TOLERATED
HuRef 1103649028973
Disease Association A chromosomal aberration involving NPAS3 is found in a family with schizophrenia. Translocation t(9;14)(q34;q13).



GET Evidence
NPAS3-A539P
aa_change Ala539Pro
aa_change_short A539P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.169176
summary