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rs104894694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894694(A;C)
Make rs104894694(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position1401329
GeneGAMT
is asnp
is mentioned by
dbSNPrs104894694
ebirs104894694
HLIrs104894694
Exacrs104894694
Varsomers104894694
Maprs104894694
PheGenIrs104894694
hapmaprs104894694
1000 genomesrs104894694
hgdprs104894694
ensemblrs104894694
gopubmedrs104894694
geneviewrs104894694
scholarrs104894694
googlers104894694
pharmgkbrs104894694
gwascentralrs104894694
openSNPrs104894694
23andMers104894694
23andMe allrs104894694
SNP Nexus

SNPshotrs104894694
SNPdbers104894694
MSV3drs104894694
GWAS Ctlgrs104894694
Max Magnitude0
OMIM601240
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894694(C;C)
Alt rs104894694(C;C)
Reference rs104894694(A;A)
Significance Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 1
HGVS NC_000019.9:g.1401328T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008803.5,