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rs121908081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908081(A;A)
Make rs121908081(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position83899152
GeneMLYCD
is asnp
is mentioned by
dbSNPrs121908081
dbSNP (classic)rs121908081
ClinGenrs121908081
ebirs121908081
HLIrs121908081
Exacrs121908081
Gnomadrs121908081
Varsomers121908081
LitVarrs121908081
Maprs121908081
PheGenIrs121908081
Biobankrs121908081
1000 genomesrs121908081
hgdprs121908081
ensemblrs121908081
geneviewrs121908081
scholarrs121908081
googlers121908081
pharmgkbrs121908081
gwascentralrs121908081
openSNPrs121908081
23andMers121908081
SNPshotrs121908081
SNPdbers121908081
MSV3drs121908081
GWAS Ctlgrs121908081
Max Magnitude0
OMIM606761
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908081(A;A)
Alt rs121908081(A;A)
Reference Rs121908081(G;G)
Significance Pathogenic
Disease Deficiency of malonyl-CoA decarboxylase
Variation info
Gene MLYCD
CLNDBN Deficiency of malonyl-CoA decarboxylase
Reversed 0
HGVS NC_000016.9:g.83932757G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004274.2,