Have questions? Visit https://www.reddit.com/r/SNPedia

rs967404590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1401344
GeneGAMT
is asnp
is mentioned by
dbSNPrs967404590
dbSNP (classic)rs967404590
ClinGenrs967404590
ebirs967404590
HLIrs967404590
Exacrs967404590
Gnomadrs967404590
Varsomers967404590
LitVarrs967404590
Maprs967404590
PheGenIrs967404590
Biobankrs967404590
1000 genomesrs967404590
hgdprs967404590
ensemblrs967404590
geneviewrs967404590
scholarrs967404590
googlers967404590
pharmgkbrs967404590
gwascentralrs967404590
openSNPrs967404590
23andMers967404590
23andMe allrs967404590
SNPshotrs967404590
SNPdbers967404590
MSV3drs967404590
GWAS Ctlgrs967404590
Max Magnitude0
ClinVar
Risk rs967404590(T;T)
Alt rs967404590(T;T)
Reference Rs967404590(A;A)
Significance Probable-Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 0
HGVS NC_000019.9:g.1401343A>T
CLNSRC
CLNACC RCV000389374.1,