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rs386833539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833539(C;G)
Make rs386833539(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556257
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833539
ebirs386833539
HLIrs386833539
Exacrs386833539
Varsomers386833539
Maprs386833539
PheGenIrs386833539
hapmaprs386833539
1000 genomesrs386833539
hgdprs386833539
ensemblrs386833539
gopubmedrs386833539
geneviewrs386833539
scholarrs386833539
googlers386833539
pharmgkbrs386833539
gwascentralrs386833539
openSNPrs386833539
23andMers386833539
23andMe allrs386833539
SNP Nexus

SNPshotrs386833539
SNPdbers386833539
MSV3drs386833539
GWAS Ctlgrs386833539
Max Magnitude0
ClinVar
Risk rs386833539(G;G)
Alt rs386833539(G;G)
Reference rs386833539(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556257G>C
CLNSRC ClinVar
CLNACC RCV000049467.1,


[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).