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rs386833524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833524(A;A)
Make rs386833524(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6592870
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833524
ebirs386833524
HLIrs386833524
Exacrs386833524
Varsomers386833524
Maprs386833524
PheGenIrs386833524
hapmaprs386833524
1000 genomesrs386833524
hgdprs386833524
ensemblrs386833524
gopubmedrs386833524
geneviewrs386833524
scholarrs386833524
googlers386833524
pharmgkbrs386833524
gwascentralrs386833524
openSNPrs386833524
23andMers386833524
23andMe allrs386833524
SNP Nexus

SNPshotrs386833524
SNPdbers386833524
MSV3drs386833524
GWAS Ctlgrs386833524
Max Magnitude0
ClinVar
Risk rs386833524(A;A)
Alt rs386833524(A;A)
Reference rs386833524(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6592870C>T
CLNSRC ClinVar
CLNACC RCV000049452.1,


[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.