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rs1060499596

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060499596(-;G)
Make rs1060499596(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7224380
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1060499596
dbSNP (old)rs1060499596
ClinGenrs1060499596
ebirs1060499596
HLIrs1060499596
Exacrs1060499596
Gnomadrs1060499596
Varsomers1060499596
Maprs1060499596
PheGenIrs1060499596
Biobankrs1060499596
1000 genomesrs1060499596
hgdprs1060499596
ensemblrs1060499596
gopubmedrs1060499596
geneviewrs1060499596
scholarrs1060499596
googlers1060499596
pharmgkbrs1060499596
gwascentralrs1060499596
openSNPrs1060499596
23andMers1060499596
23andMe allrs1060499596
SNPshotrs1060499596
SNPdbers1060499596
MSV3drs1060499596
GWAS Ctlgrs1060499596
Max Magnitude0
ClinVar
Risk rs1060499596(G;G)
Alt rs1060499596(G;G)
Reference Rs1060499596(-;-)
Significance Probable-Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene ACADVL MIR324
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7127699dupG
CLNSRC
CLNACC RCV000477936.1,