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rs450046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0
Make rs450046(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position18913491
GenePRODH
is asnp
is mentioned by
dbSNPrs450046
ebirs450046
HLIrs450046
Exacrs450046
Varsomers450046
Maprs450046
PheGenIrs450046
hapmaprs450046
1000 genomesrs450046
hgdprs450046
ensemblrs450046
gopubmedrs450046
geneviewrs450046
scholarrs450046
googlers450046
pharmgkbrs450046
gwascentralrs450046
openSNPrs450046
23andMers450046
23andMe allrs450046
SNP Nexus

SNPshotrs450046
SNPdbers450046
MSV3drs450046
GWAS Ctlgrs450046
GMAF0.08678
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM606810
DescHYPERPROLINEMIA, TYPE I
Variant0006
Relatedalso

also referred to as 1766A/G

plos rs450046 was most strongly positively associated with schizophrenia in families.

[PMID 19232576] rs372055(C), rs450046(G), rs385440(A) haplotype carriers (n = 32) exhibited attenuated PPI + verbal memory (p < .001) as well as higher anxiety (p < .004) and schizotypy (p < .008) compared to noncarriers (n = 185)


ClinVar
Risk rs450046(T;T)
Alt rs450046(T;T)
Reference rs450046(C;C)
Significance Other
Disease Proline dehydrogenase deficiency Schizophrenia 4 not provided
Variation info
Gene PRODH
CLNDBN Proline dehydrogenase deficiency Schizophrenia 4 not provided
Reversed 0
HGVS NC_000022.10:g.18901004C\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000004222.5, RCV000004223.5, RCV000115065.1,



[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.

[PMID 18408230OA-icon.png] Structural cerebral variations as useful endophenotypes in schizophrenia: do they help construct "extended endophenotypes"?

[PMID 18989458OA-icon.png] Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function.

[PMID 19693005OA-icon.png] Executive function, neural circuitry, and genetic mechanisms in schizophrenia.


GET Evidence
PRODH-R413Q
aa_change Arg413Gln
aa_change_short R413Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary