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rs121964986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964986(C;T)
Make rs121964986(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49419382
GeneAMT
is asnp
is mentioned by
dbSNPrs121964986
ebirs121964986
HLIrs121964986
Exacrs121964986
Varsomers121964986
Maprs121964986
PheGenIrs121964986
hapmaprs121964986
1000 genomesrs121964986
hgdprs121964986
ensemblrs121964986
gopubmedrs121964986
geneviewrs121964986
scholarrs121964986
googlers121964986
pharmgkbrs121964986
gwascentralrs121964986
openSNPrs121964986
23andMers121964986
23andMe allrs121964986
SNP Nexus

SNPshotrs121964986
SNPdbers121964986
MSV3drs121964986
GWAS Ctlgrs121964986
Max Magnitude0
OMIM238310
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121964986(T;T)
Alt rs121964986(T;T)
Reference rs121964986(C;C)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49456815G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012760.18,