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rs386833554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833554(A;A)
Make rs386833554(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6553510
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833554
ebirs386833554
HLIrs386833554
Exacrs386833554
Varsomers386833554
Maprs386833554
PheGenIrs386833554
hapmaprs386833554
1000 genomesrs386833554
hgdprs386833554
ensemblrs386833554
gopubmedrs386833554
geneviewrs386833554
scholarrs386833554
googlers386833554
pharmgkbrs386833554
gwascentralrs386833554
openSNPrs386833554
23andMers386833554
23andMe allrs386833554
SNP Nexus

SNPshotrs386833554
SNPdbers386833554
MSV3drs386833554
GWAS Ctlgrs386833554
Max Magnitude0
ClinVar
Risk rs386833554(A;A)
Alt rs386833554(A;A)
Reference rs386833554(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6553510C>T
CLNSRC ClinVar
CLNACC RCV000049482.1,


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