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rs41305353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common on affy axiom data
Make rs41305353(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31478314
GeneDMD
is asnp
is mentioned by
dbSNPrs41305353
ebirs41305353
HLIrs41305353
Exacrs41305353
Varsomers41305353
Maprs41305353
PheGenIrs41305353
hapmaprs41305353
1000 genomesrs41305353
hgdprs41305353
ensemblrs41305353
gopubmedrs41305353
geneviewrs41305353
scholarrs41305353
googlers41305353
pharmgkbrs41305353
gwascentralrs41305353
openSNPrs41305353
23andMers41305353
23andMe allrs41305353
SNP Nexus

SNPshotrs41305353
SNPdbers41305353
MSV3drs41305353
GWAS Ctlgrs41305353
GMAF0.03869
Max Magnitude0
OMIM300377
Desc
Variant0061
Relatedalso


ClinVar
Risk rs41305353(A;A)
Alt rs41305353(A;A)
Reference rs41305353(T;T)
Significance Pathogenic
Disease Duchenne muscular dystrophy not specified
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy not specified
Reversed 0
HGVS NC_000023.10:g.31496431T>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012018.5, RCV000080810.6,



GET Evidence
DMD-E2910V
aa_change Glu2910Val
aa_change_short E2910V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0296838
summary