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rs386833684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833684(C;C)
Make rs386833684(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49420209
GeneAMT
is asnp
is mentioned by
dbSNPrs386833684
ebirs386833684
HLIrs386833684
Exacrs386833684
Varsomers386833684
Maprs386833684
PheGenIrs386833684
hapmaprs386833684
1000 genomesrs386833684
hgdprs386833684
ensemblrs386833684
gopubmedrs386833684
geneviewrs386833684
scholarrs386833684
googlers386833684
pharmgkbrs386833684
gwascentralrs386833684
openSNPrs386833684
23andMers386833684
23andMe allrs386833684
SNP Nexus

SNPshotrs386833684
SNPdbers386833684
MSV3drs386833684
GWAS Ctlgrs386833684
Max Magnitude0
ClinVar
Risk rs386833684(C;C)
Alt rs386833684(C;C)
Reference rs386833684(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49457642A>G
CLNSRC ClinVar
CLNACC RCV000049645.1,


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.