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rs138058572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138058572(A;A)
Make rs138058572(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223993
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs138058572
dbSNP (classic)rs138058572
ClinGenrs138058572
ebirs138058572
HLIrs138058572
Exacrs138058572
Gnomadrs138058572
Varsomers138058572
LitVarrs138058572
Maprs138058572
PheGenIrs138058572
Biobankrs138058572
1000 genomesrs138058572
hgdprs138058572
ensemblrs138058572
geneviewrs138058572
scholarrs138058572
googlers138058572
pharmgkbrs138058572
gwascentralrs138058572
openSNPrs138058572
23andMers138058572
23andMe allrs138058572
SNPshotrs138058572
SNPdbers138058572
MSV3drs138058572
GWAS Ctlgrs138058572
Max Magnitude0
ClinVar
Risk rs138058572(A;A)
Alt rs138058572(A;A)
Reference Rs138058572(G;G)
Significance Probable-Pathogenic
Disease Myopathy Rhabdomyolysis
Variation info
Gene MIR324 ACADVL
CLNDBN Myopathy Rhabdomyolysis
Reversed 0
HGVS NC_000017.10:g.7127312G>A
CLNSRC
CLNACC RCV000415274.1,