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rs386833530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833530(C;C)
Make rs386833530(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6645324
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833530
ebirs386833530
HLIrs386833530
Exacrs386833530
Varsomers386833530
Maprs386833530
PheGenIrs386833530
hapmaprs386833530
1000 genomesrs386833530
hgdprs386833530
ensemblrs386833530
gopubmedrs386833530
geneviewrs386833530
scholarrs386833530
googlers386833530
pharmgkbrs386833530
gwascentralrs386833530
openSNPrs386833530
23andMers386833530
23andMe allrs386833530
SNP Nexus

SNPshotrs386833530
SNPdbers386833530
MSV3drs386833530
GWAS Ctlgrs386833530
Max Magnitude0
ClinVar
Risk rs386833530(C;C)
Alt rs386833530(C;C)
Reference rs386833530(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6645324C>G
CLNSRC ClinVar
CLNACC RCV000049458.1,


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