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rs137852649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852649(C;T)
Make rs137852649(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position123043127
GeneACADSB
is asnp
is mentioned by
dbSNPrs137852649
ebirs137852649
HLIrs137852649
Exacrs137852649
Varsomers137852649
Maprs137852649
PheGenIrs137852649
hapmaprs137852649
1000 genomesrs137852649
hgdprs137852649
ensemblrs137852649
gopubmedrs137852649
geneviewrs137852649
scholarrs137852649
googlers137852649
pharmgkbrs137852649
gwascentralrs137852649
openSNPrs137852649
23andMers137852649
23andMe allrs137852649
SNP Nexus

SNPshotrs137852649
SNPdbers137852649
MSV3drs137852649
GWAS Ctlgrs137852649
Max Magnitude0
OMIM600301
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852649(T;T)
Alt rs137852649(T;T)
Reference rs137852649(C;C)
Significance Pathogenic
Disease Deficiency of 2-methylbutyryl-CoA dehydrogenase
Variation info
Gene ACADSB
CLNDBN Deficiency of 2-methylbutyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000010.10:g.124802643C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009778.2,