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rs1060502619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1060502619(AA;AA)
Make rs1060502619(AA;GG)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position31496944
GeneDMD
is asnp
is mentioned by
dbSNPrs1060502619
dbSNP (classic)rs1060502619
ClinGenrs1060502619
ebirs1060502619
HLIrs1060502619
Exacrs1060502619
Gnomadrs1060502619
Varsomers1060502619
LitVarrs1060502619
Maprs1060502619
PheGenIrs1060502619
Biobankrs1060502619
1000 genomesrs1060502619
hgdprs1060502619
ensemblrs1060502619
geneviewrs1060502619
scholarrs1060502619
googlers1060502619
pharmgkbrs1060502619
gwascentralrs1060502619
openSNPrs1060502619
23andMers1060502619
SNPshotrs1060502619
SNPdbers1060502619
MSV3drs1060502619
GWAS Ctlgrs1060502619
Max Magnitude0
ClinVar
Risk rs1060502619(AA;AA)
Alt rs1060502619(AA;AA)
Reference Rs1060502619(GG;GG)
Significance Probable-Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31515061_31515062delCCinsTT
CLNSRC
CLNACC RCV000464014.1,