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rs386833586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833586(-;-)
Make rs386833586(-;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6605199
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833586
ebirs386833586
HLIrs386833586
Exacrs386833586
Varsomers386833586
Maprs386833586
PheGenIrs386833586
hapmaprs386833586
1000 genomesrs386833586
hgdprs386833586
ensemblrs386833586
gopubmedrs386833586
geneviewrs386833586
scholarrs386833586
googlers386833586
pharmgkbrs386833586
gwascentralrs386833586
openSNPrs386833586
23andMers386833586
23andMe allrs386833586
SNP Nexus

SNPshotrs386833586
SNPdbers386833586
MSV3drs386833586
GWAS Ctlgrs386833586
Max Magnitude0
ClinVar
Risk rs386833586(;)
Alt rs386833586(;)
Reference rs386833586(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6605199delG
CLNSRC ClinVar
CLNACC RCV000049512.1,


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