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rs1800556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800556(C;T)
Make rs1800556(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120737875
GeneACADS
is asnp
is mentioned by
dbSNPrs1800556
ebirs1800556
HLIrs1800556
Exacrs1800556
Varsomers1800556
Maprs1800556
PheGenIrs1800556
hapmaprs1800556
1000 genomesrs1800556
hgdprs1800556
ensemblrs1800556
gopubmedrs1800556
geneviewrs1800556
scholarrs1800556
googlers1800556
pharmgkbrs1800556
gwascentralrs1800556
openSNPrs1800556
23andMers1800556
23andMe allrs1800556
SNP Nexus

SNPshotrs1800556
SNPdbers1800556
MSV3drs1800556
GWAS Ctlgrs1800556
Merged fromRs28940873
GMAF0.02479
Max Magnitude0
Venter snp
Source plos
Gene ACADS
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103649554437
Disease Association Defects in ACADS are the cause of short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) (MIM:201470). It is an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.



Neighborrs28940874
Distance64
Neighborrs28940873
Distance1
OMIM606885
Desc
Variant0006
Relatedalso


ClinVar
Risk rs1800556(T;T)
Alt rs1800556(T;T)
Reference rs1800556(C;C)
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.121175678C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004034.4, RCV000185683.2,



[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.