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rs386833528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833528(A;T)
Make rs386833528(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6588686
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833528
ebirs386833528
HLIrs386833528
Exacrs386833528
Varsomers386833528
Maprs386833528
PheGenIrs386833528
hapmaprs386833528
1000 genomesrs386833528
hgdprs386833528
ensemblrs386833528
gopubmedrs386833528
geneviewrs386833528
scholarrs386833528
googlers386833528
pharmgkbrs386833528
gwascentralrs386833528
openSNPrs386833528
23andMers386833528
23andMe allrs386833528
SNP Nexus

SNPshotrs386833528
SNPdbers386833528
MSV3drs386833528
GWAS Ctlgrs386833528
Max Magnitude0
ClinVar
Risk rs386833528(T;T)
Alt rs386833528(T;T)
Reference rs386833528(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6588686T>A
CLNSRC ClinVar
CLNACC RCV000049456.1,


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