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rs386833538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833538(C;C)
Make rs386833538(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556275
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833538
ebirs386833538
HLIrs386833538
Exacrs386833538
Varsomers386833538
Maprs386833538
PheGenIrs386833538
hapmaprs386833538
1000 genomesrs386833538
hgdprs386833538
ensemblrs386833538
gopubmedrs386833538
geneviewrs386833538
scholarrs386833538
googlers386833538
pharmgkbrs386833538
gwascentralrs386833538
openSNPrs386833538
23andMers386833538
23andMe allrs386833538
SNP Nexus

SNPshotrs386833538
SNPdbers386833538
MSV3drs386833538
GWAS Ctlgrs386833538
Max Magnitude0
ClinVar
Risk rs386833538(C;C)
Alt rs386833538(C;C)
Reference rs386833538(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556275C>G
CLNSRC ClinVar
CLNACC RCV000049466.1,


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