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rs1799958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799958(A;A)
Make rs1799958(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position120738280
GeneACADS
is asnp
is mentioned by
dbSNPrs1799958
ebirs1799958
HLIrs1799958
Exacrs1799958
Varsomers1799958
Maprs1799958
PheGenIrs1799958
hapmaprs1799958
1000 genomesrs1799958
hgdprs1799958
ensemblrs1799958
gopubmedrs1799958
geneviewrs1799958
scholarrs1799958
googlers1799958
pharmgkbrs1799958
gwascentralrs1799958
openSNPrs1799958
23andMers1799958
23andMe allrs1799958
SNP Nexus

SNPshotrs1799958
SNPdbers1799958
MSV3drs1799958
GWAS Ctlgrs1799958
GMAF0.1763
Max Magnitude0
OMIM606885
Desc
Variant0007
Relatedalso


ClinVar
Risk rs1799958(A;A)
Alt rs1799958(A;A)
Reference rs1799958(G;G)
Significance Other
Disease Deficiency of butyryl-CoA dehydrogenase not specified not provided
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase not specified not provided
Reversed 0
HGVS NC_000012.11:g.121176083G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004035.4, RCV000077896.4, RCV000185685.2,



[PMID 19470168OA-icon.png] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.


[PMID 20180986OA-icon.png] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.


GET Evidence
ACADS-G209S
aa_change Gly209Ser
aa_change_short G209S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.193995
summary