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rs121908331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908331(A;G)
Make rs121908331(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position79055859
GeneDMGDH
is asnp
is mentioned by
dbSNPrs121908331
ebirs121908331
HLIrs121908331
Exacrs121908331
Varsomers121908331
Maprs121908331
PheGenIrs121908331
hapmaprs121908331
1000 genomesrs121908331
hgdprs121908331
ensemblrs121908331
gopubmedrs121908331
geneviewrs121908331
scholarrs121908331
googlers121908331
pharmgkbrs121908331
gwascentralrs121908331
openSNPrs121908331
23andMers121908331
23andMe allrs121908331
SNP Nexus

SNPshotrs121908331
SNPdbers121908331
MSV3drs121908331
GWAS Ctlgrs121908331
GMAF0.001837
Max Magnitude0
OMIM605849
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908331(G;G)
Alt rs121908331(G;G)
Reference rs121908331(A;A)
Significance Pathogenic
Disease Dimethylglycine dehydrogenase deficiency
Variation info
Gene DMGDH
CLNDBN Dimethylglycine dehydrogenase deficiency
Reversed 1
HGVS NC_000005.9:g.78351682T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005008.2,