Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833533(G;G)
Make rs386833533(G;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6587159
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833533
ebirs386833533
HLIrs386833533
Exacrs386833533
Varsomers386833533
Maprs386833533
PheGenIrs386833533
hapmaprs386833533
1000 genomesrs386833533
hgdprs386833533
ensemblrs386833533
gopubmedrs386833533
geneviewrs386833533
scholarrs386833533
googlers386833533
pharmgkbrs386833533
gwascentralrs386833533
openSNPrs386833533
23andMers386833533
23andMe allrs386833533
SNP Nexus

SNPshotrs386833533
SNPdbers386833533
MSV3drs386833533
GWAS Ctlgrs386833533
Max Magnitude0
ClinVar
Risk rs386833533(G;G)
Alt rs386833533(G;G)
Reference rs386833533(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6587159A>C
CLNSRC ClinVar
CLNACC RCV000049461.1,


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