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rs386833541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATC;ATC) 0 common in clinvar
Make rs386833541(ATC;TCCTGGTTTA)
Make rs386833541(TCCTGGTTTA;TCCTGGTTTA)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556200
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833541
ebirs386833541
HLIrs386833541
Exacrs386833541
Varsomers386833541
Maprs386833541
PheGenIrs386833541
hapmaprs386833541
1000 genomesrs386833541
hgdprs386833541
ensemblrs386833541
gopubmedrs386833541
geneviewrs386833541
scholarrs386833541
googlers386833541
pharmgkbrs386833541
gwascentralrs386833541
openSNPrs386833541
23andMers386833541
23andMe allrs386833541
SNP Nexus

SNPshotrs386833541
SNPdbers386833541
MSV3drs386833541
GWAS Ctlgrs386833541
Max Magnitude0
ClinVar
Risk rs386833541(TCCTGGTTTA;TCCTGGTTTA)
Alt rs386833541(TCCTGGTTTA;TCCTGGTTTA)
Reference rs386833541(ATC;ATC)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556200_6556202delGATinsTAAACCAGGA
CLNSRC ClinVar
CLNACC RCV000049469.1,


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