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rs1057516028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516028(C;T)
Make rs1057516028(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position32287680
GeneDMD
is asnp
is mentioned by
dbSNPrs1057516028
dbSNP (old)rs1057516028
ClinGenrs1057516028
ebirs1057516028
HLIrs1057516028
Exacrs1057516028
Gnomadrs1057516028
Varsomers1057516028
LitVarrs1057516028
Maprs1057516028
PheGenIrs1057516028
Biobankrs1057516028
1000 genomesrs1057516028
hgdprs1057516028
ensemblrs1057516028
gopubmedrs1057516028
geneviewrs1057516028
scholarrs1057516028
googlers1057516028
pharmgkbrs1057516028
gwascentralrs1057516028
openSNPrs1057516028
23andMers1057516028
23andMe allrs1057516028
SNPshotrs1057516028
SNPdbers1057516028
MSV3drs1057516028
GWAS Ctlgrs1057516028
Max Magnitude0
ClinVar
Risk rs1057516028(T;T)
Alt rs1057516028(T;T)
Reference Rs1057516028(C;C)
Significance Pathogenic
Disease Elevated serum creatine phosphokinase
Variation info
Gene DMD
CLNDBN Elevated serum creatine phosphokinase
Reversed 1
HGVS NC_000023.10:g.32305797G>A
CLNSRC
CLNACC RCV000408629.1,