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rs386833567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833567(C;T)
Make rs386833567(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6540060
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833567
ebirs386833567
HLIrs386833567
Exacrs386833567
Varsomers386833567
Maprs386833567
PheGenIrs386833567
hapmaprs386833567
1000 genomesrs386833567
hgdprs386833567
ensemblrs386833567
gopubmedrs386833567
geneviewrs386833567
scholarrs386833567
googlers386833567
pharmgkbrs386833567
gwascentralrs386833567
openSNPrs386833567
23andMers386833567
23andMe allrs386833567
SNP Nexus

SNPshotrs386833567
SNPdbers386833567
MSV3drs386833567
GWAS Ctlgrs386833567
Max Magnitude0
ClinVar
Risk rs386833567(T;T)
Alt rs386833567(T;T)
Reference rs386833567(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6540060G>A
CLNSRC ClinVar
CLNACC RCV000049495.1,


[PMID 15670722] Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.