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rs2008720

From SNPedia

Orientationminus
Stabilizedminus
Make rs2008720(A;A)
Make rs2008720(A;C)
Make rs2008720(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position18936232
GenePRODH
is asnp
is mentioned by
dbSNPrs2008720
ebirs2008720
HLIrs2008720
Exacrs2008720
Varsomers2008720
Maprs2008720
PheGenIrs2008720
hapmaprs2008720
1000 genomesrs2008720
hgdprs2008720
ensemblrs2008720
gopubmedrs2008720
geneviewrs2008720
scholarrs2008720
googlers2008720
pharmgkbrs2008720
gwascentralrs2008720
openSNPrs2008720
23andMers2008720
23andMe allrs2008720
SNP Nexus

SNPshotrs2008720
SNPdbers2008720
MSV3drs2008720
GWAS Ctlgrs2008720
GMAF0.4596
Max Magnitude
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene PRODH
allele T
frequency 0.475
sift
HuRef 1103691005878
Disease Association Defects in PRODH are the cause of type I hyperprolinaemia (MIM:239500). It is a disorder characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated in the 22q11 velocardiofacial syndrome.



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