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rs121964984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964984(C;C)
Make rs121964984(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49419022
GeneAMT
is asnp
is mentioned by
dbSNPrs121964984
ebirs121964984
HLIrs121964984
Exacrs121964984
Varsomers121964984
Maprs121964984
PheGenIrs121964984
hapmaprs121964984
1000 genomesrs121964984
hgdprs121964984
ensemblrs121964984
gopubmedrs121964984
geneviewrs121964984
scholarrs121964984
googlers121964984
pharmgkbrs121964984
gwascentralrs121964984
openSNPrs121964984
23andMers121964984
23andMe allrs121964984
SNP Nexus

SNPshotrs121964984
SNPdbers121964984
MSV3drs121964984
GWAS Ctlgrs121964984
Max Magnitude0
OMIM238310
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964984(C;C)
Alt rs121964984(C;C)
Reference rs121964984(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49456455C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012758.24,