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rs4816

From SNPedia

Orientationplus
Stabilizedplus
Make rs4816(A;A)
Make rs4816(A;G)
Make rs4816(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position149793609
GenePCMT1
is asnp
is mentioned by
dbSNPrs4816
ebirs4816
HLIrs4816
Exacrs4816
Varsomers4816
Maprs4816
PheGenIrs4816
hapmaprs4816
1000 genomesrs4816
hgdprs4816
ensemblrs4816
gopubmedrs4816
geneviewrs4816
scholarrs4816
googlers4816
pharmgkbrs4816
gwascentralrs4816
openSNPrs4816
23andMers4816
23andMe allrs4816
SNP Nexus

SNPshotrs4816
SNPdbers4816
MSV3drs4816
GWAS Ctlgrs4816
GMAF0.3627
Max Magnitude
? (A;A) (A;G) (G;G) 28

[PMID 22647835] Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area


[PMID 19290383OA-icon.png] Posttranslational Protein Modifications in Type 1 Diabetes - Genetic Studies with PCMT1, the Repair Enzyme Protein Isoaspartate Methyltransferase (PIMT) Encoding Gene.


GET Evidence
PCMT1-V120I
aa_change Val120Ile
aa_change_short V120I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.637097
summary