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rs386833562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833562(C;C)
Make rs386833562(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6550851
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833562
ebirs386833562
HLIrs386833562
Exacrs386833562
Varsomers386833562
Maprs386833562
PheGenIrs386833562
hapmaprs386833562
1000 genomesrs386833562
hgdprs386833562
ensemblrs386833562
gopubmedrs386833562
geneviewrs386833562
scholarrs386833562
googlers386833562
pharmgkbrs386833562
gwascentralrs386833562
openSNPrs386833562
23andMers386833562
23andMe allrs386833562
SNP Nexus

SNPshotrs386833562
SNPdbers386833562
MSV3drs386833562
GWAS Ctlgrs386833562
Max Magnitude0
ClinVar
Risk rs386833562(C;C)
Alt rs386833562(C;C)
Reference rs386833562(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6550851C>G
CLNSRC ClinVar
CLNACC RCV000049490.1,


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