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

rs864321678

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864321678(A;G)
Make rs864321678(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position42962849
GeneCNPY3-GNMT, GNMT
is asnp
is mentioned by
dbSNPrs864321678
ebirs864321678
HLIrs864321678
Exacrs864321678
Varsomers864321678
Maprs864321678
PheGenIrs864321678
hapmaprs864321678
1000 genomesrs864321678
hgdprs864321678
ensemblrs864321678
gopubmedrs864321678
geneviewrs864321678
scholarrs864321678
googlers864321678
pharmgkbrs864321678
gwascentralrs864321678
openSNPrs864321678
23andMers864321678
23andMe allrs864321678
SNP Nexus

SNPshotrs864321678
SNPdbers864321678
MSV3drs864321678
GWAS Ctlgrs864321678
Max Magnitude0
ClinVar
Risk rs864321678(G;G)
Alt rs864321678(G;G)
Reference rs864321678(A;A)
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.42930587A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000203283.1,