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rs386833576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833576(C;G)
Make rs386833576(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6620259
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833576
ebirs386833576
HLIrs386833576
Exacrs386833576
Varsomers386833576
Maprs386833576
PheGenIrs386833576
hapmaprs386833576
1000 genomesrs386833576
hgdprs386833576
ensemblrs386833576
gopubmedrs386833576
geneviewrs386833576
scholarrs386833576
googlers386833576
pharmgkbrs386833576
gwascentralrs386833576
openSNPrs386833576
23andMers386833576
23andMe allrs386833576
SNP Nexus

SNPshotrs386833576
SNPdbers386833576
MSV3drs386833576
GWAS Ctlgrs386833576
Max Magnitude0
ClinVar
Risk rs386833576(G,T;G,T)
Alt rs386833576(G,T;G,T)
Reference rs386833576(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6620259G>C
CLNSRC ClinVar
CLNACC RCV000049503.1,


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