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rs104894528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894528(C;G)
Make rs104894528(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position83907018
GeneMLYCD
is asnp
is mentioned by
dbSNPrs104894528
dbSNP (classic)rs104894528
ClinGenrs104894528
ebirs104894528
HLIrs104894528
Exacrs104894528
Gnomadrs104894528
Varsomers104894528
LitVarrs104894528
Maprs104894528
PheGenIrs104894528
Biobankrs104894528
1000 genomesrs104894528
hgdprs104894528
ensemblrs104894528
geneviewrs104894528
scholarrs104894528
googlers104894528
pharmgkbrs104894528
gwascentralrs104894528
openSNPrs104894528
23andMers104894528
SNPshotrs104894528
SNPdbers104894528
MSV3drs104894528
GWAS Ctlgrs104894528
Max Magnitude0
OMIM606761
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894528(G;G)
Alt rs104894528(G;G)
Reference Rs104894528(C;C)
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.83940623C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004270.2,