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rs386833549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833549(C;C)
Make rs386833549(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554703
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833549
ebirs386833549
HLIrs386833549
Exacrs386833549
Varsomers386833549
Maprs386833549
PheGenIrs386833549
hapmaprs386833549
1000 genomesrs386833549
hgdprs386833549
ensemblrs386833549
gopubmedrs386833549
geneviewrs386833549
scholarrs386833549
googlers386833549
pharmgkbrs386833549
gwascentralrs386833549
openSNPrs386833549
23andMers386833549
23andMe allrs386833549
SNP Nexus

SNPshotrs386833549
SNPdbers386833549
MSV3drs386833549
GWAS Ctlgrs386833549
Max Magnitude0
ClinVar
Risk rs386833549(A,C;A,C)
Alt rs386833549(A,C;A,C)
Reference rs386833549(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554703C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012766.23,