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rs121907888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907888(C;C)
Make rs121907888(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42960916
GeneGNMT
is asnp
is mentioned by
dbSNPrs121907888
ebirs121907888
HLIrs121907888
Exacrs121907888
Varsomers121907888
Maprs121907888
PheGenIrs121907888
hapmaprs121907888
1000 genomesrs121907888
hgdprs121907888
ensemblrs121907888
gopubmedrs121907888
geneviewrs121907888
scholarrs121907888
googlers121907888
pharmgkbrs121907888
gwascentralrs121907888
openSNPrs121907888
23andMers121907888
23andMe allrs121907888
SNP Nexus

SNPshotrs121907888
SNPdbers121907888
MSV3drs121907888
GWAS Ctlgrs121907888
Max Magnitude0
OMIM606628
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121907888(C;C)
Alt rs121907888(C;C)
Reference rs121907888(T;T)
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.42928654T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004386.3,