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rs386833583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833583(C;T)
Make rs386833583(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6610222
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833583
ebirs386833583
HLIrs386833583
Exacrs386833583
Varsomers386833583
Maprs386833583
PheGenIrs386833583
hapmaprs386833583
1000 genomesrs386833583
hgdprs386833583
ensemblrs386833583
gopubmedrs386833583
geneviewrs386833583
scholarrs386833583
googlers386833583
pharmgkbrs386833583
gwascentralrs386833583
openSNPrs386833583
23andMers386833583
23andMe allrs386833583
SNP Nexus

SNPshotrs386833583
SNPdbers386833583
MSV3drs386833583
GWAS Ctlgrs386833583
Max Magnitude0
ClinVar
Risk rs386833583(T;T)
Alt rs386833583(T;T)
Reference rs386833583(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6610222G>A
CLNSRC ClinVar
CLNACC RCV000049510.1,


[PMID 21411353] Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.