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rs386833581

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833581(C;C)
Make rs386833581(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6610314
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833581
ebirs386833581
HLIrs386833581
Exacrs386833581
Varsomers386833581
Maprs386833581
PheGenIrs386833581
hapmaprs386833581
1000 genomesrs386833581
hgdprs386833581
ensemblrs386833581
gopubmedrs386833581
geneviewrs386833581
scholarrs386833581
googlers386833581
pharmgkbrs386833581
gwascentralrs386833581
openSNPrs386833581
23andMers386833581
23andMe allrs386833581
SNP Nexus

SNPshotrs386833581
SNPdbers386833581
MSV3drs386833581
GWAS Ctlgrs386833581
Max Magnitude0
ClinVar
Risk rs386833581(C;C)
Alt rs386833581(C;C)
Reference rs386833581(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6610314C>G
CLNSRC ClinVar
CLNACC RCV000049508.1,


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