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rs58639322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs58639322(C;T)
Make rs58639322(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position123040605
GeneACADSB
is asnp
is mentioned by
dbSNPrs58639322
ebirs58639322
HLIrs58639322
Exacrs58639322
Varsomers58639322
Maprs58639322
PheGenIrs58639322
hapmaprs58639322
1000 genomesrs58639322
hgdprs58639322
ensemblrs58639322
gopubmedrs58639322
geneviewrs58639322
scholarrs58639322
googlers58639322
pharmgkbrs58639322
gwascentralrs58639322
openSNPrs58639322
23andMers58639322
23andMe allrs58639322
SNP Nexus

SNPshotrs58639322
SNPdbers58639322
MSV3drs58639322
GWAS Ctlgrs58639322
GMAF0.0009183
Max Magnitude0
OMIM600301
Desc
Variant0004
Relatedalso
ClinVar
Risk rs58639322(T;T)
Alt rs58639322(T;T)
Reference rs58639322(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.124800121C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009780.4,