Have questions? Visit https://www.reddit.com/r/SNPedia

rs28940875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940875(C;T)
Make rs28940875(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120739347
GeneACADS
is asnp
is mentioned by
dbSNPrs28940875
ebirs28940875
HLIrs28940875
Exacrs28940875
Varsomers28940875
Maprs28940875
PheGenIrs28940875
hapmaprs28940875
1000 genomesrs28940875
hgdprs28940875
ensemblrs28940875
gopubmedrs28940875
geneviewrs28940875
scholarrs28940875
googlers28940875
pharmgkbrs28940875
gwascentralrs28940875
openSNPrs28940875
23andMers28940875
23andMe allrs28940875
SNP Nexus

SNPshotrs28940875
SNPdbers28940875
MSV3drs28940875
GWAS Ctlgrs28940875
Max Magnitude0
OMIM606885
DescSCAD DEFICIENCY
Variant0013
Relatedalso
Neighborrs28941773
Distance179
Neighborrs28940872
Distance9


ClinVar
Risk rs28940875(G,T;G,T)
Alt rs28940875(G,T;G,T)
Reference rs28940875(C;C)
Significance Other
Disease not provided Deficiency of butyryl-CoA dehydrogenase
Variation info
Gene ACADS
CLNDBN not provided Deficiency of butyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000012.11:g.121177150C>G; NC_000012.11:g.121177150C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185698.1, RCV000004041.4, RCV000185699.1,