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rs386833681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833681(C;C)
Make rs386833681(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49421573
GeneAMT
is asnp
is mentioned by
dbSNPrs386833681
ebirs386833681
HLIrs386833681
Exacrs386833681
Varsomers386833681
Maprs386833681
PheGenIrs386833681
hapmaprs386833681
1000 genomesrs386833681
hgdprs386833681
ensemblrs386833681
gopubmedrs386833681
geneviewrs386833681
scholarrs386833681
googlers386833681
pharmgkbrs386833681
gwascentralrs386833681
openSNPrs386833681
23andMers386833681
23andMe allrs386833681
SNP Nexus

SNPshotrs386833681
SNPdbers386833681
MSV3drs386833681
GWAS Ctlgrs386833681
Max Magnitude0
ClinVar
Risk rs386833681(C;C)
Alt rs386833681(C;C)
Reference rs386833681(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49459006C>G
CLNSRC ClinVar
CLNACC RCV000049642.1,


[PMID 19299230] Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.