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rs386833566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833566(A;T)
Make rs386833566(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6540077
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833566
ebirs386833566
HLIrs386833566
Exacrs386833566
Varsomers386833566
Maprs386833566
PheGenIrs386833566
hapmaprs386833566
1000 genomesrs386833566
hgdprs386833566
ensemblrs386833566
gopubmedrs386833566
geneviewrs386833566
scholarrs386833566
googlers386833566
pharmgkbrs386833566
gwascentralrs386833566
openSNPrs386833566
23andMers386833566
23andMe allrs386833566
SNP Nexus

SNPshotrs386833566
SNPdbers386833566
MSV3drs386833566
GWAS Ctlgrs386833566
Max Magnitude0
ClinVar
Risk rs386833566(T;T)
Alt rs386833566(T;T)
Reference rs386833566(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6540077T>A
CLNSRC ClinVar
CLNACC RCV000049494.1,


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