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rs147936696

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147936696(A;A)
Make rs147936696(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position123037848
GeneACADSB
is asnp
is mentioned by
dbSNPrs147936696
ebirs147936696
HLIrs147936696
Exacrs147936696
Varsomers147936696
Maprs147936696
PheGenIrs147936696
hapmaprs147936696
1000 genomesrs147936696
hgdprs147936696
ensemblrs147936696
gopubmedrs147936696
geneviewrs147936696
scholarrs147936696
googlers147936696
pharmgkbrs147936696
gwascentralrs147936696
openSNPrs147936696
23andMers147936696
23andMe allrs147936696
SNP Nexus

SNPshotrs147936696
SNPdbers147936696
MSV3drs147936696
GWAS Ctlgrs147936696
Max Magnitude0
ClinVar
Risk rs147936696(A;A)
Alt rs147936696(A;A)
Reference rs147936696(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.124797364G>A
CLNSRC
CLNACC RCV000185535.2,