Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907889(A;A)
Make rs121907889(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position42963149
GeneGNMT
is asnp
is mentioned by
dbSNPrs121907889
ebirs121907889
HLIrs121907889
Exacrs121907889
Varsomers121907889
Maprs121907889
PheGenIrs121907889
hapmaprs121907889
1000 genomesrs121907889
hgdprs121907889
ensemblrs121907889
gopubmedrs121907889
geneviewrs121907889
scholarrs121907889
googlers121907889
pharmgkbrs121907889
gwascentralrs121907889
openSNPrs121907889
23andMers121907889
23andMe allrs121907889
SNP Nexus

SNPshotrs121907889
SNPdbers121907889
MSV3drs121907889
GWAS Ctlgrs121907889
Max Magnitude0
OMIM606628
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121907889(A;A)
Alt rs121907889(A;A)
Reference rs121907889(C;C)
Significance Pathogenic
Disease Glycine N-methyltransferase deficiency
Variation info
Gene CNPY3-GNMT GNMT
CLNDBN Glycine N-methyltransferase deficiency
Reversed 0
HGVS NC_000006.11:g.42930887C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004387.3,