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rs188094280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs188094280(A;A)
Make rs188094280(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position123053091
GeneACADSB
is asnp
is mentioned by
dbSNPrs188094280
ebirs188094280
HLIrs188094280
Exacrs188094280
Varsomers188094280
Maprs188094280
PheGenIrs188094280
hapmaprs188094280
1000 genomesrs188094280
hgdprs188094280
ensemblrs188094280
gopubmedrs188094280
geneviewrs188094280
scholarrs188094280
googlers188094280
pharmgkbrs188094280
gwascentralrs188094280
openSNPrs188094280
23andMers188094280
23andMe allrs188094280
SNP Nexus

SNPshotrs188094280
SNPdbers188094280
MSV3drs188094280
GWAS Ctlgrs188094280
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs188094280(A;A)
Alt rs188094280(A;A)
Reference rs188094280(G;G)
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.124812607G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009781.4,