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rs4129148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) >3x risk
(C;G) 2 3x risk of schizophrenia.
(G;G) common
ReferenceGRCh38 38.1/141
ChromosomeX
Position1029445
GeneCSF2RA
is asnp
is mentioned by
dbSNPrs4129148
ebirs4129148
HLIrs4129148
Exacrs4129148
Varsomers4129148
Maprs4129148
PheGenIrs4129148
hapmaprs4129148
1000 genomesrs4129148
hgdprs4129148
ensemblrs4129148
gopubmedrs4129148
geneviewrs4129148
scholarrs4129148
googlers4129148
pharmgkbrs4129148
gwascentralrs4129148
openSNPrs4129148
23andMers4129148
23andMe allrs4129148
SNP Nexus

SNPshotrs4129148
SNPdbers4129148
MSV3drs4129148
GWAS Ctlgrs4129148
GMAF0.4587
Max Magnitude2
? (C;C) (C;G) (G;G) 28

Located in the Pseudoautosomal region

rs4129148, located near the CSF2RA gene, has been reported in a whole genome association study to be associated with schizophrenia.

The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with this allele is 3.23 (CI 2.04 - 5.15). [PMID 17522711]

GWAS
SNP rs4129148
PubMedID [PMID 17522711]
Condition Schizophrenia
Gene CSF2RA,IL3RA
Risk Allele C
pValue 4.00E-007
OR 3.23
95% CI 2.04-5.15


[PMID 19197363OA-icon.png] A genome-wide investigation of SNPs and CNVs in schizophrenia.


[PMID 19844207OA-icon.png] Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.


[PMID 20485477OA-icon.png] New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia?

Given the results from the recent massive Psychiatric Genomics Consortium GWAS, it appears very unlikely that any large effect common SNPs exist for schizophrenia. It is not completely clear, though, how the previously replicated results for rs4129148 might be explained. It is currently predicted that 10,000 SNPs contribute to schizophrenic illness.

The diagnosis for schizophrenia has now possibly shifted from asking: Schizophrenic? Yes or No to How much Schizophrenic?


[PMID 25056061OA-icon.png] Biological insights from 108 schizophrenia-associated genetic loci.


GET Evidence
rs4129148
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.421569
summary