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

rs386833560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833560(C;T)
Make rs386833560(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6550883
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833560
ebirs386833560
HLIrs386833560
Exacrs386833560
Varsomers386833560
Maprs386833560
PheGenIrs386833560
hapmaprs386833560
1000 genomesrs386833560
hgdprs386833560
ensemblrs386833560
gopubmedrs386833560
geneviewrs386833560
scholarrs386833560
googlers386833560
pharmgkbrs386833560
gwascentralrs386833560
openSNPrs386833560
23andMers386833560
23andMe allrs386833560
SNP Nexus

SNPshotrs386833560
SNPdbers386833560
MSV3drs386833560
GWAS Ctlgrs386833560
Max Magnitude0
ClinVar
Risk rs386833560(T;T)
Alt rs386833560(T;T)
Reference rs386833560(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6550883G>A
CLNSRC ClinVar
CLNACC RCV000049488.1,


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