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rs1060502646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAATTTGC;AAATTTGC) 0 common in clinvar
Make rs1060502646(-;-)
Make rs1060502646(-;AAATTTGC)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position32342131
GeneDMD
is asnp
is mentioned by
dbSNPrs1060502646
dbSNP (classic)rs1060502646
ClinGenrs1060502646
ebirs1060502646
HLIrs1060502646
Exacrs1060502646
Gnomadrs1060502646
Varsomers1060502646
LitVarrs1060502646
Maprs1060502646
PheGenIrs1060502646
Biobankrs1060502646
1000 genomesrs1060502646
hgdprs1060502646
ensemblrs1060502646
geneviewrs1060502646
scholarrs1060502646
googlers1060502646
pharmgkbrs1060502646
gwascentralrs1060502646
openSNPrs1060502646
23andMers1060502646
SNPshotrs1060502646
SNPdbers1060502646
MSV3drs1060502646
GWAS Ctlgrs1060502646
Max Magnitude0
ClinVar
Risk rs1060502646(-;-)
Alt rs1060502646(-;-)
Reference Rs1060502646(AAATTTGC;AAATTTGC)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32360248_32360255delGCAAATTT
CLNSRC
CLNACC RCV000457394.1,