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rs386833571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833571(C;C)
Make rs386833571(C;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6534758
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833571
ebirs386833571
HLIrs386833571
Exacrs386833571
Varsomers386833571
Maprs386833571
PheGenIrs386833571
hapmaprs386833571
1000 genomesrs386833571
hgdprs386833571
ensemblrs386833571
gopubmedrs386833571
geneviewrs386833571
scholarrs386833571
googlers386833571
pharmgkbrs386833571
gwascentralrs386833571
openSNPrs386833571
23andMers386833571
23andMe allrs386833571
SNP Nexus

SNPshotrs386833571
SNPdbers386833571
MSV3drs386833571
GWAS Ctlgrs386833571
Max Magnitude0
ClinVar
Risk rs386833571(C;C)
Alt rs386833571(C;C)
Reference rs386833571(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6534758A>G
CLNSRC ClinVar
CLNACC RCV000049499.1,


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