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rs386833582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833582(A;A)
Make rs386833582(A;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6610267
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833582
ebirs386833582
HLIrs386833582
Exacrs386833582
Varsomers386833582
Maprs386833582
PheGenIrs386833582
hapmaprs386833582
1000 genomesrs386833582
hgdprs386833582
ensemblrs386833582
gopubmedrs386833582
geneviewrs386833582
scholarrs386833582
googlers386833582
pharmgkbrs386833582
gwascentralrs386833582
openSNPrs386833582
23andMers386833582
23andMe allrs386833582
SNP Nexus

SNPshotrs386833582
SNPdbers386833582
MSV3drs386833582
GWAS Ctlgrs386833582
Max Magnitude0
ClinVar
Risk rs386833582(A;A)
Alt rs386833582(A;A)
Reference rs386833582(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6610267G>T
CLNSRC ClinVar
CLNACC RCV000049509.1,


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