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rs386833536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833536(A;G)
Make rs386833536(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6558659
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833536
ebirs386833536
HLIrs386833536
Exacrs386833536
Varsomers386833536
Maprs386833536
PheGenIrs386833536
hapmaprs386833536
1000 genomesrs386833536
hgdprs386833536
ensemblrs386833536
gopubmedrs386833536
geneviewrs386833536
scholarrs386833536
googlers386833536
pharmgkbrs386833536
gwascentralrs386833536
openSNPrs386833536
23andMers386833536
23andMe allrs386833536
SNP Nexus

SNPshotrs386833536
SNPdbers386833536
MSV3drs386833536
GWAS Ctlgrs386833536
Max Magnitude0
ClinVar
Risk rs386833536(G;G)
Alt rs386833536(G;G)
Reference rs386833536(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6558659T>C
CLNSRC ClinVar
CLNACC RCV000049464.1,


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