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rs386833523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833523(A;A)
Make rs386833523(A;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6592933
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833523
ebirs386833523
HLIrs386833523
Exacrs386833523
Varsomers386833523
Maprs386833523
PheGenIrs386833523
hapmaprs386833523
1000 genomesrs386833523
hgdprs386833523
ensemblrs386833523
gopubmedrs386833523
geneviewrs386833523
scholarrs386833523
googlers386833523
pharmgkbrs386833523
gwascentralrs386833523
openSNPrs386833523
23andMers386833523
23andMe allrs386833523
SNP Nexus

SNPshotrs386833523
SNPdbers386833523
MSV3drs386833523
GWAS Ctlgrs386833523
Max Magnitude0
ClinVar
Risk rs386833523(A;A)
Alt rs386833523(A;A)
Reference rs386833523(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6592933A>T
CLNSRC ClinVar
CLNACC RCV000049451.1,


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