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rs57443665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57443665(G;G)
Make rs57443665(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120737893
GeneACADS
is asnp
is mentioned by
dbSNPrs57443665
ebirs57443665
HLIrs57443665
Exacrs57443665
Varsomers57443665
Maprs57443665
PheGenIrs57443665
hapmaprs57443665
1000 genomesrs57443665
hgdprs57443665
ensemblrs57443665
gopubmedrs57443665
geneviewrs57443665
scholarrs57443665
googlers57443665
pharmgkbrs57443665
gwascentralrs57443665
openSNPrs57443665
23andMers57443665
23andMe allrs57443665
SNP Nexus

SNPshotrs57443665
SNPdbers57443665
MSV3drs57443665
GWAS Ctlgrs57443665
GMAF0.001377
Max Magnitude0
OMIM606885
Desc
Variant0004
Relatedalso
ClinVar
Risk rs57443665(C,G;C,G)
Alt rs57443665(C,G;C,G)
Reference rs57443665(T;T)
Significance Other
Disease Deficiency of butyryl-CoA dehydrogenase not provided
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase not provided
Reversed 0
HGVS NC_000012.11:g.121175696T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004032.4, RCV000185684.2,


GET Evidence
ACADS-W177R
aa_change Trp177Arg
aa_change_short W177R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0022309
summary