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rs386833520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833520(-;-)
Make rs386833520(-;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6595100
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833520
ebirs386833520
HLIrs386833520
Exacrs386833520
Varsomers386833520
Maprs386833520
PheGenIrs386833520
hapmaprs386833520
1000 genomesrs386833520
hgdprs386833520
ensemblrs386833520
gopubmedrs386833520
geneviewrs386833520
scholarrs386833520
googlers386833520
pharmgkbrs386833520
gwascentralrs386833520
openSNPrs386833520
23andMers386833520
23andMe allrs386833520
SNP Nexus

SNPshotrs386833520
SNPdbers386833520
MSV3drs386833520
GWAS Ctlgrs386833520
Max Magnitude0
ClinVar
Risk rs386833520(;)
Alt rs386833520(;)
Reference rs386833520(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6595100delG
CLNSRC ClinVar
CLNACC RCV000049448.1,


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