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

rs386833544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833544(A;A)
Make rs386833544(A;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556159
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833544
ebirs386833544
HLIrs386833544
Exacrs386833544
Varsomers386833544
Maprs386833544
PheGenIrs386833544
hapmaprs386833544
1000 genomesrs386833544
hgdprs386833544
ensemblrs386833544
gopubmedrs386833544
geneviewrs386833544
scholarrs386833544
googlers386833544
pharmgkbrs386833544
gwascentralrs386833544
openSNPrs386833544
23andMers386833544
23andMe allrs386833544
SNP Nexus

SNPshotrs386833544
SNPdbers386833544
MSV3drs386833544
GWAS Ctlgrs386833544
Max Magnitude0
ClinVar
Risk rs386833544(A;A)
Alt rs386833544(A;A)
Reference rs386833544(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556159A>T
CLNSRC ClinVar
CLNACC RCV000049472.1,


[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.