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rs386833569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833569(C;C)
Make rs386833569(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6534789
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833569
ebirs386833569
HLIrs386833569
Exacrs386833569
Varsomers386833569
Maprs386833569
PheGenIrs386833569
hapmaprs386833569
1000 genomesrs386833569
hgdprs386833569
ensemblrs386833569
gopubmedrs386833569
geneviewrs386833569
scholarrs386833569
googlers386833569
pharmgkbrs386833569
gwascentralrs386833569
openSNPrs386833569
23andMers386833569
23andMe allrs386833569
SNP Nexus

SNPshotrs386833569
SNPdbers386833569
MSV3drs386833569
GWAS Ctlgrs386833569
Max Magnitude0
ClinVar
Risk rs386833569(C;C)
Alt rs386833569(C;C)
Reference rs386833569(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6534789C>G
CLNSRC ClinVar
CLNACC RCV000049497.1,


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.