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rs386833543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833543(-;-)
Make rs386833543(-;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556169
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833543
ebirs386833543
HLIrs386833543
Exacrs386833543
Varsomers386833543
Maprs386833543
PheGenIrs386833543
hapmaprs386833543
1000 genomesrs386833543
hgdprs386833543
ensemblrs386833543
gopubmedrs386833543
geneviewrs386833543
scholarrs386833543
googlers386833543
pharmgkbrs386833543
gwascentralrs386833543
openSNPrs386833543
23andMers386833543
23andMe allrs386833543
SNP Nexus

SNPshotrs386833543
SNPdbers386833543
MSV3drs386833543
GWAS Ctlgrs386833543
Max Magnitude0
ClinVar
Risk rs386833543(;)
Alt rs386833543(;)
Reference rs386833543(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556169delG
CLNSRC ClinVar
CLNACC RCV000049471.1,


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