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rs121964976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 0 Those who have a single T allele are carriers of the illness glycine encephalopathy. This is a treatable childhood illness when diagnosed early.
(G;G) 0 common in clinvar
Make rs121964976(C;C)
Make rs121964976(C;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position6589230
GeneGLDC
is asnp
is mentioned by
dbSNPrs121964976
ebirs121964976
HLIrs121964976
Exacrs121964976
Varsomers121964976
Maprs121964976
PheGenIrs121964976
hapmaprs121964976
1000 genomesrs121964976
hgdprs121964976
ensemblrs121964976
gopubmedrs121964976
geneviewrs121964976
scholarrs121964976
googlers121964976
pharmgkbrs121964976
gwascentralrs121964976
openSNPrs121964976
23andMers121964976
23andMe allrs121964976
SNP Nexus

SNPshotrs121964976
SNPdbers121964976
MSV3drs121964976
GWAS Ctlgrs121964976
GMAF0.01791
Max Magnitude0
OMIM238300
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964976(A;A)
Alt rs121964976(A;A)
Reference rs121964976(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6589230C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012765.16,