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rs386833577

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833577(A;T)
Make rs386833577(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6620241
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833577
ebirs386833577
HLIrs386833577
Exacrs386833577
Varsomers386833577
Maprs386833577
PheGenIrs386833577
hapmaprs386833577
1000 genomesrs386833577
hgdprs386833577
ensemblrs386833577
gopubmedrs386833577
geneviewrs386833577
scholarrs386833577
googlers386833577
pharmgkbrs386833577
gwascentralrs386833577
openSNPrs386833577
23andMers386833577
23andMe allrs386833577
SNP Nexus

SNPshotrs386833577
SNPdbers386833577
MSV3drs386833577
GWAS Ctlgrs386833577
Max Magnitude0
ClinVar
Risk rs386833577(T;T)
Alt rs386833577(T;T)
Reference rs386833577(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6620241T>A
CLNSRC ClinVar
CLNACC RCV000049504.1,


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