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rs104894788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894788(A;A)
Make rs104894788(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31180437
GeneDMD
is asnp
is mentioned by
dbSNPrs104894788
dbSNP (classic)rs104894788
ClinGenrs104894788
ebirs104894788
HLIrs104894788
Exacrs104894788
Gnomadrs104894788
Varsomers104894788
LitVarrs104894788
Maprs104894788
PheGenIrs104894788
Biobankrs104894788
1000 genomesrs104894788
hgdprs104894788
ensemblrs104894788
geneviewrs104894788
scholarrs104894788
googlers104894788
pharmgkbrs104894788
gwascentralrs104894788
openSNPrs104894788
23andMers104894788
SNPshotrs104894788
SNPdbers104894788
MSV3drs104894788
GWAS Ctlgrs104894788
Max Magnitude0
OMIM300377
Desc
Variant0026
Relatedalso
ClinVar
Risk rs104894788(A;A)
Alt rs104894788(A;A)
Reference Rs104894788(G;G)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave
Reversed 1
HGVS NC_000023.10:g.31198554C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011987.2,