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rs386833572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833572(-;-)
Make rs386833572(-;A)
Make rs386833572(A;A)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6534735
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833572
ebirs386833572
HLIrs386833572
Exacrs386833572
Varsomers386833572
Maprs386833572
PheGenIrs386833572
hapmaprs386833572
1000 genomesrs386833572
hgdprs386833572
ensemblrs386833572
gopubmedrs386833572
geneviewrs386833572
scholarrs386833572
googlers386833572
pharmgkbrs386833572
gwascentralrs386833572
openSNPrs386833572
23andMers386833572
23andMe allrs386833572
SNP Nexus

SNPshotrs386833572
SNPdbers386833572
MSV3drs386833572
GWAS Ctlgrs386833572
Max Magnitude0
ClinVar
Risk rs386833572(A;A)
Alt rs386833572(A;A)
Reference rs386833572(;)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6534736dupT
CLNSRC ClinVar
CLNACC RCV000049583.1,


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.