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rs886054247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome19
Position1401344
GeneGAMT
is asnp
is mentioned by
dbSNPrs886054247
dbSNP (classic)rs886054247
ClinGenrs886054247
ebirs886054247
HLIrs886054247
Exacrs886054247
Gnomadrs886054247
Varsomers886054247
LitVarrs886054247
Maprs886054247
PheGenIrs886054247
Biobankrs886054247
1000 genomesrs886054247
hgdprs886054247
ensemblrs886054247
geneviewrs886054247
scholarrs886054247
googlers886054247
pharmgkbrs886054247
gwascentralrs886054247
openSNPrs886054247
23andMers886054247
23andMe allrs886054247
SNPshotrs886054247
SNPdbers886054247
MSV3drs886054247
GWAS Ctlgrs886054247
Max Magnitude0
ClinVar
Risk rs886054247(A;A)
Alt rs886054247(A;A)
Reference Rs886054247(T;T)
Significance Probable-Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 1
HGVS NC_000019.9:g.1401343A>T
CLNSRC Illumina
CLNACC RCV000389374.1,