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rs386833558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833558(-;-)
Make rs386833558(-;A)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6553403
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833558
ClinGenrs386833558
ebirs386833558
HLIrs386833558
Exacrs386833558
Varsomers386833558
Maprs386833558
PheGenIrs386833558
hapmaprs386833558
1000 genomesrs386833558
hgdprs386833558
ensemblrs386833558
gopubmedrs386833558
geneviewrs386833558
scholarrs386833558
googlers386833558
pharmgkbrs386833558
gwascentralrs386833558
openSNPrs386833558
23andMers386833558
23andMe allrs386833558
SNP Nexus

SNPshotrs386833558
SNPdbers386833558
MSV3drs386833558
GWAS Ctlgrs386833558
Max Magnitude0
ClinVar
Risk rs386833558(-;-)
Alt rs386833558(-;-)
Reference Rs386833558(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6553403delT
CLNSRC ClinVar
CLNACC RCV000049486.1,


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