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rs386833550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833550(A;A)
Make rs386833550(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554700
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833550
ebirs386833550
HLIrs386833550
Exacrs386833550
Varsomers386833550
Maprs386833550
PheGenIrs386833550
hapmaprs386833550
1000 genomesrs386833550
hgdprs386833550
ensemblrs386833550
gopubmedrs386833550
geneviewrs386833550
scholarrs386833550
googlers386833550
pharmgkbrs386833550
gwascentralrs386833550
openSNPrs386833550
23andMers386833550
23andMe allrs386833550
SNP Nexus

SNPshotrs386833550
SNPdbers386833550
MSV3drs386833550
GWAS Ctlgrs386833550
Max Magnitude0
ClinVar
Risk rs386833550(A;A)
Alt rs386833550(A;A)
Reference rs386833550(G;G)
Significance Other
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554700C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000049478.4,


[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).