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rs111851815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111851815(A;A)
Make rs111851815(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7224245
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs111851815
dbSNP (old)rs111851815
ClinGenrs111851815
ebirs111851815
HLIrs111851815
Exacrs111851815
Gnomadrs111851815
Varsomers111851815
Maprs111851815
PheGenIrs111851815
Biobankrs111851815
1000 genomesrs111851815
hgdprs111851815
ensemblrs111851815
gopubmedrs111851815
geneviewrs111851815
scholarrs111851815
googlers111851815
pharmgkbrs111851815
gwascentralrs111851815
openSNPrs111851815
23andMers111851815
23andMe allrs111851815
SNPshotrs111851815
SNPdbers111851815
MSV3drs111851815
GWAS Ctlgrs111851815
Max Magnitude0
ClinVar
Risk rs111851815(A;A) rs111851815(C;C)
Alt rs111851815(A;A) rs111851815(C;C)
Reference Rs111851815(T;T)
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.7127564T>C
CLNSRC
CLNACC RCV000411534.1,