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rs386833575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833575(A;A)
Make rs386833575(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6534707
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833575
ebirs386833575
HLIrs386833575
Exacrs386833575
Varsomers386833575
Maprs386833575
PheGenIrs386833575
hapmaprs386833575
1000 genomesrs386833575
hgdprs386833575
ensemblrs386833575
gopubmedrs386833575
geneviewrs386833575
scholarrs386833575
googlers386833575
pharmgkbrs386833575
gwascentralrs386833575
openSNPrs386833575
23andMers386833575
23andMe allrs386833575
SNP Nexus

SNPshotrs386833575
SNPdbers386833575
MSV3drs386833575
GWAS Ctlgrs386833575
Max Magnitude0
ClinVar
Risk rs386833575(A;A)
Alt rs386833575(A;A)
Reference rs386833575(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6534707C>T
CLNSRC ClinVar
CLNACC RCV000049502.1,


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