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rs386833531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833531(C;T)
Make rs386833531(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6587205
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833531
ebirs386833531
HLIrs386833531
Exacrs386833531
Varsomers386833531
Maprs386833531
PheGenIrs386833531
hapmaprs386833531
1000 genomesrs386833531
hgdprs386833531
ensemblrs386833531
gopubmedrs386833531
geneviewrs386833531
scholarrs386833531
googlers386833531
pharmgkbrs386833531
gwascentralrs386833531
openSNPrs386833531
23andMers386833531
23andMe allrs386833531
SNP Nexus

SNPshotrs386833531
SNPdbers386833531
MSV3drs386833531
GWAS Ctlgrs386833531
Max Magnitude0
ClinVar
Risk rs386833531(T;T)
Alt rs386833531(T;T)
Reference rs386833531(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6587205G>A
CLNSRC ClinVar
CLNACC RCV000049459.1,


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