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rs121964981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964981(A;A)
Make rs121964981(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49419042
GeneAMT
is asnp
is mentioned by
dbSNPrs121964981
ebirs121964981
HLIrs121964981
Exacrs121964981
Varsomers121964981
Maprs121964981
PheGenIrs121964981
hapmaprs121964981
1000 genomesrs121964981
hgdprs121964981
ensemblrs121964981
gopubmedrs121964981
geneviewrs121964981
scholarrs121964981
googlers121964981
pharmgkbrs121964981
gwascentralrs121964981
openSNPrs121964981
23andMers121964981
23andMe allrs121964981
SNP Nexus

SNPshotrs121964981
SNPdbers121964981
MSV3drs121964981
GWAS Ctlgrs121964981
Max Magnitude0
OMIM238310
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964981(A;A)
Alt rs121964981(A;A)
Reference rs121964981(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49456475C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012754.23,