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rs386833555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833555(A;G)
Make rs386833555(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6553501
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833555
ebirs386833555
HLIrs386833555
Exacrs386833555
Varsomers386833555
Maprs386833555
PheGenIrs386833555
hapmaprs386833555
1000 genomesrs386833555
hgdprs386833555
ensemblrs386833555
gopubmedrs386833555
geneviewrs386833555
scholarrs386833555
googlers386833555
pharmgkbrs386833555
gwascentralrs386833555
openSNPrs386833555
23andMers386833555
23andMe allrs386833555
SNP Nexus

SNPshotrs386833555
SNPdbers386833555
MSV3drs386833555
GWAS Ctlgrs386833555
Max Magnitude0
ClinVar
Risk rs386833555(G;G)
Alt rs386833555(G;G)
Reference rs386833555(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6553501T>C
CLNSRC ClinVar
CLNACC RCV000049483.1,


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