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rs121909272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909272(A;A)
Make rs121909272(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1398980
GeneGAMT
is asnp
is mentioned by
dbSNPrs121909272
ebirs121909272
HLIrs121909272
Exacrs121909272
Varsomers121909272
Maprs121909272
PheGenIrs121909272
hapmaprs121909272
1000 genomesrs121909272
hgdprs121909272
ensemblrs121909272
gopubmedrs121909272
geneviewrs121909272
scholarrs121909272
googlers121909272
pharmgkbrs121909272
gwascentralrs121909272
openSNPrs121909272
23andMers121909272
23andMe allrs121909272
SNP Nexus

SNPshotrs121909272
SNPdbers121909272
MSV3drs121909272
GWAS Ctlgrs121909272
Max Magnitude0
OMIM601240
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909272(A;A)
Alt rs121909272(A;A)
Reference rs121909272(G;G)
Significance Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 1
HGVS NC_000019.9:g.1398979C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008802.4,