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rs140989450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a VLCAD deficiency mutation
Make rs140989450(A;A)
Make rs140989450(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222866
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs140989450
dbSNP (classic)rs140989450
ClinGenrs140989450
ebirs140989450
HLIrs140989450
Exacrs140989450
Gnomadrs140989450
Varsomers140989450
LitVarrs140989450
Maprs140989450
PheGenIrs140989450
Biobankrs140989450
1000 genomesrs140989450
hgdprs140989450
ensemblrs140989450
geneviewrs140989450
scholarrs140989450
googlers140989450
pharmgkbrs140989450
gwascentralrs140989450
openSNPrs140989450
23andMers140989450
SNPshotrs140989450
SNPdbers140989450
MSV3drs140989450
GWAS Ctlgrs140989450
Max Magnitude3
ClinVar
Risk rs140989450(A;A) rs140989450(T;T)
Alt rs140989450(A;A) rs140989450(T;T)
Reference Rs140989450(G;G)
Significance Probable-Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene MIR324 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7126185G>T
CLNSRC
CLNACC RCV000412397.1,