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rs386833551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833551(C;T)
Make rs386833551(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554691
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833551
ebirs386833551
HLIrs386833551
Exacrs386833551
Varsomers386833551
Maprs386833551
PheGenIrs386833551
hapmaprs386833551
1000 genomesrs386833551
hgdprs386833551
ensemblrs386833551
gopubmedrs386833551
geneviewrs386833551
scholarrs386833551
googlers386833551
pharmgkbrs386833551
gwascentralrs386833551
openSNPrs386833551
23andMers386833551
23andMe allrs386833551
SNP Nexus

SNPshotrs386833551
SNPdbers386833551
MSV3drs386833551
GWAS Ctlgrs386833551
Max Magnitude0
ClinVar
Risk rs386833551(T;T)
Alt rs386833551(T;T)
Reference rs386833551(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554691G>A
CLNSRC ClinVar
CLNACC RCV000049479.1,


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