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rs386833573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833573(A;G)
Make rs386833573(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6534731
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833573
ebirs386833573
HLIrs386833573
Exacrs386833573
Varsomers386833573
Maprs386833573
PheGenIrs386833573
hapmaprs386833573
1000 genomesrs386833573
hgdprs386833573
ensemblrs386833573
gopubmedrs386833573
geneviewrs386833573
scholarrs386833573
googlers386833573
pharmgkbrs386833573
gwascentralrs386833573
openSNPrs386833573
23andMers386833573
23andMe allrs386833573
SNP Nexus

SNPshotrs386833573
SNPdbers386833573
MSV3drs386833573
GWAS Ctlgrs386833573
Max Magnitude0
ClinVar
Risk rs386833573(G;G)
Alt rs386833573(G;G)
Reference rs386833573(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6534731T>C
CLNSRC ClinVar
CLNACC RCV000049500.1,


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