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rs386833592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833592(A;A)
Make rs386833592(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6604709
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833592
dbSNP (old)rs386833592
ClinGenrs386833592
ebirs386833592
HLIrs386833592
Exacrs386833592
Varsomers386833592
Maprs386833592
PheGenIrs386833592
Biobankrs386833592
1000 genomesrs386833592
hgdprs386833592
ensemblrs386833592
gopubmedrs386833592
geneviewrs386833592
scholarrs386833592
googlers386833592
pharmgkbrs386833592
gwascentralrs386833592
openSNPrs386833592
23andMers386833592
23andMe allrs386833592
SNP Nexus

SNPshotrs386833592
SNPdbers386833592
MSV3drs386833592
GWAS Ctlgrs386833592
Max Magnitude0
ClinVar
Risk rs386833592(A;A) rs386833592(C;C) rs386833592(T;T)
Alt rs386833592(A;A) rs386833592(C;C) rs386833592(T;T)
Reference Rs386833592(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6604709C>G
CLNSRC ClinVar
CLNACC RCV000049518.1,


[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).