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rs386833537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833537(C;T)
Make rs386833537(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6558615
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833537
ebirs386833537
HLIrs386833537
Exacrs386833537
Varsomers386833537
Maprs386833537
PheGenIrs386833537
hapmaprs386833537
1000 genomesrs386833537
hgdprs386833537
ensemblrs386833537
gopubmedrs386833537
geneviewrs386833537
scholarrs386833537
googlers386833537
pharmgkbrs386833537
gwascentralrs386833537
openSNPrs386833537
23andMers386833537
23andMe allrs386833537
SNP Nexus

SNPshotrs386833537
SNPdbers386833537
MSV3drs386833537
GWAS Ctlgrs386833537
Max Magnitude0
ClinVar
Risk rs386833537(T;T)
Alt rs386833537(T;T)
Reference rs386833537(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6558615G>A
CLNSRC ClinVar
CLNACC RCV000049465.1,


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