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rs80338735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338735(A;A)
Make rs80338735(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1399793
GeneGAMT
is asnp
is mentioned by
dbSNPrs80338735
ebirs80338735
HLIrs80338735
Exacrs80338735
Varsomers80338735
Maprs80338735
PheGenIrs80338735
hapmaprs80338735
1000 genomesrs80338735
hgdprs80338735
ensemblrs80338735
gopubmedrs80338735
geneviewrs80338735
scholarrs80338735
googlers80338735
pharmgkbrs80338735
gwascentralrs80338735
openSNPrs80338735
23andMers80338735
23andMe allrs80338735
SNP Nexus

SNPshotrs80338735
SNPdbers80338735
MSV3drs80338735
GWAS Ctlgrs80338735
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80338735(A;A)
Alt rs80338735(A;A)
Reference rs80338735(G;G)
Significance Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase not provided
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase not provided
Reversed 1
HGVS NC_000019.9:g.1399792C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020141.2, RCV000187564.2,


[PMID 8651275OA-icon.png] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.