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rs532964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 0
Make rs532964(C;C)
Make rs532964(C;T)
Make rs532964(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position79044463
GeneDMGDH
is asnp
is mentioned by
dbSNPrs532964
ebirs532964
HLIrs532964
Exacrs532964
Varsomers532964
Maprs532964
PheGenIrs532964
hapmaprs532964
1000 genomesrs532964
hgdprs532964
ensemblrs532964
gopubmedrs532964
geneviewrs532964
scholarrs532964
googlers532964
pharmgkbrs532964
gwascentralrs532964
openSNPrs532964
23andMers532964
23andMe allrs532964
SNP Nexus

SNPshotrs532964
SNPdbers532964
MSV3drs532964
GWAS Ctlgrs532964
GMAF0.3921
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene DMGDH
allele G
frequency 0.467
sift TOLERATED
HuRef 1103654141733
Disease Association Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) (MIM:605850). DMGDHD is a disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N- dimethylglycine (DMG) in serum and urine.



[PMID 19048631OA-icon.png] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.


GET Evidence
DMGDH-S279P
aa_change Ser279Pro
aa_change_short S279P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.550753
summary