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rs386833547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833547(A;C)
Make rs386833547(C;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554726
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833547
ebirs386833547
HLIrs386833547
Exacrs386833547
Varsomers386833547
Maprs386833547
PheGenIrs386833547
hapmaprs386833547
1000 genomesrs386833547
hgdprs386833547
ensemblrs386833547
gopubmedrs386833547
geneviewrs386833547
scholarrs386833547
googlers386833547
pharmgkbrs386833547
gwascentralrs386833547
openSNPrs386833547
23andMers386833547
23andMe allrs386833547
SNP Nexus

SNPshotrs386833547
SNPdbers386833547
MSV3drs386833547
GWAS Ctlgrs386833547
Max Magnitude0
ClinVar
Risk rs386833547(C;C)
Alt rs386833547(C;C)
Reference rs386833547(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554726T>G
CLNSRC ClinVar
CLNACC RCV000049475.1,


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