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

rs1057518834

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518834(-;-)
Make rs1057518834(-;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position32849737
GeneDMD
is asnp
is mentioned by
dbSNPrs1057518834
dbSNP (old)rs1057518834
ClinGenrs1057518834
ebirs1057518834
HLIrs1057518834
Exacrs1057518834
Gnomadrs1057518834
Varsomers1057518834
Maprs1057518834
PheGenIrs1057518834
Biobankrs1057518834
1000 genomesrs1057518834
hgdprs1057518834
ensemblrs1057518834
gopubmedrs1057518834
geneviewrs1057518834
scholarrs1057518834
googlers1057518834
pharmgkbrs1057518834
gwascentralrs1057518834
openSNPrs1057518834
23andMers1057518834
23andMe allrs1057518834
SNPshotrs1057518834
SNPdbers1057518834
MSV3drs1057518834
GWAS Ctlgrs1057518834
Max Magnitude0
ClinVar
Risk rs1057518834(-;-)
Alt rs1057518834(-;-)
Reference Rs1057518834(G;G)
Significance Probable-Pathogenic
Disease Decreased body weight EMG: myopathic abnormalities Exercise-induced muscle cramps Exercise-induced muscle fatigue Exercise-induced muscle stiffness Exercise-induced myalgia Exercise-induced rhabdomyolysis Myopathy Short stature
Variation info
Gene DMD
CLNDBN Decreased body weight EMG: myopathic abnormalities Exercise-induced muscle cramps Exercise-induced muscle fatigue Exercise-induced muscle stiffness Exercise-induced myalgia Exercise-induced rhabdomyolysis Myopathy Short stature
Reversed 1
HGVS NC_000023.10:g.32867854delC
CLNSRC
CLNACC RCV000414800.1,