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rs121964979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a glycine encephalopathy mutation
(T;T) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
ReferenceGRCh37 37.1/132
Chromosome9
Position6595109
GeneGLDC
is asnp
is mentioned by
dbSNPrs121964979
dbSNP (old)rs121964979
ClinGenrs121964979
ebirs121964979
HLIrs121964979
Exacrs121964979
Gnomadrs121964979
Varsomers121964979
Maprs121964979
PheGenIrs121964979
Biobankrs121964979
1000 genomesrs121964979
hgdprs121964979
ensemblrs121964979
gopubmedrs121964979
geneviewrs121964979
scholarrs121964979
googlers121964979
pharmgkbrs121964979
gwascentralrs121964979
openSNPrs121964979
23andMers121964979
23andMe allrs121964979
SNP Nexus

SNPshotrs121964979
SNPdbers121964979
MSV3drs121964979
GWAS Ctlgrs121964979
Max Magnitude8.8

c.1166C>T (p.Ala389Val)

23andMe calls this i5007986

OMIM238300
Desc
Variant0008
Relatedalso
ClinVar
Risk Rs121964979(T;T)
Alt Rs121964979(T;T)
Reference Rs121964979(C;C)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia not provided
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia not provided
Reversed 1
HGVS NC_000009.11:g.6595109G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012769.17, RCV000482511.1,