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

rs386833540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833540(C;T)
Make rs386833540(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556250
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833540
ebirs386833540
HLIrs386833540
Exacrs386833540
Varsomers386833540
Maprs386833540
PheGenIrs386833540
hapmaprs386833540
1000 genomesrs386833540
hgdprs386833540
ensemblrs386833540
gopubmedrs386833540
geneviewrs386833540
scholarrs386833540
googlers386833540
pharmgkbrs386833540
gwascentralrs386833540
openSNPrs386833540
23andMers386833540
23andMe allrs386833540
SNP Nexus

SNPshotrs386833540
SNPdbers386833540
MSV3drs386833540
GWAS Ctlgrs386833540
Max Magnitude0
ClinVar
Risk rs386833540(T;T)
Alt rs386833540(T;T)
Reference rs386833540(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556250G>A
CLNSRC ClinVar
CLNACC RCV000049468.1,


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