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rs370421531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370421531(C;T)
Make rs370421531(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position1398964
GeneGAMT
is asnp
is mentioned by
dbSNPrs370421531
dbSNP (classic)rs370421531
ClinGenrs370421531
ebirs370421531
HLIrs370421531
Exacrs370421531
Gnomadrs370421531
Varsomers370421531
LitVarrs370421531
Maprs370421531
PheGenIrs370421531
Biobankrs370421531
1000 genomesrs370421531
hgdprs370421531
ensemblrs370421531
geneviewrs370421531
scholarrs370421531
googlers370421531
pharmgkbrs370421531
gwascentralrs370421531
openSNPrs370421531
23andMers370421531
SNPshotrs370421531
SNPdbers370421531
MSV3drs370421531
GWAS Ctlgrs370421531
Max Magnitude0
ClinVar
Risk rs370421531(T;T)
Alt rs370421531(T;T)
Reference Rs370421531(C;C)
Significance Pathogenic
Disease not provided Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN not provided Deficiency of guanidinoacetate methyltransferase
Reversed 0
HGVS NC_000019.9:g.1398963C>T
CLNSRC
CLNACC RCV000187569.1, RCV000316896.1,