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rs1057518962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518962(A;A)
Make rs1057518962(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position32573812
GeneDMD
is asnp
is mentioned by
dbSNPrs1057518962
dbSNP (old)rs1057518962
ClinGenrs1057518962
ebirs1057518962
HLIrs1057518962
Exacrs1057518962
Gnomadrs1057518962
Varsomers1057518962
LitVarrs1057518962
Maprs1057518962
PheGenIrs1057518962
Biobankrs1057518962
1000 genomesrs1057518962
hgdprs1057518962
ensemblrs1057518962
gopubmedrs1057518962
geneviewrs1057518962
scholarrs1057518962
googlers1057518962
pharmgkbrs1057518962
gwascentralrs1057518962
openSNPrs1057518962
23andMers1057518962
23andMe allrs1057518962
SNPshotrs1057518962
SNPdbers1057518962
MSV3drs1057518962
GWAS Ctlgrs1057518962
Max Magnitude0
ClinVar
Risk rs1057518962(A;A)
Alt rs1057518962(A;A)
Reference Rs1057518962(G;G)
Significance Pathogenic
Disease Calf muscle hypertrophy EMG abnormality EMG: myopathic abnormalities Motor delay Muscle cramps Muscle weakness
Variation info
Gene DMD
CLNDBN Calf muscle hypertrophy EMG abnormality EMG: myopathic abnormalities Motor delay Muscle cramps Muscle weakness
Reversed 1
HGVS NC_000023.10:g.32591929C>T
CLNSRC
CLNACC RCV000415104.1,