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rs121964985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964985(A;A)
Make rs121964985(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49417892
GeneAMT
is asnp
is mentioned by
dbSNPrs121964985
ebirs121964985
HLIrs121964985
Exacrs121964985
Varsomers121964985
Maprs121964985
PheGenIrs121964985
hapmaprs121964985
1000 genomesrs121964985
hgdprs121964985
ensemblrs121964985
gopubmedrs121964985
geneviewrs121964985
scholarrs121964985
googlers121964985
pharmgkbrs121964985
gwascentralrs121964985
openSNPrs121964985
23andMers121964985
23andMe allrs121964985
SNP Nexus

SNPshotrs121964985
SNPdbers121964985
MSV3drs121964985
GWAS Ctlgrs121964985
Max Magnitude0
OMIM238310
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121964985(A;A)
Alt rs121964985(A;A)
Reference rs121964985(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49455325C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012759.27,