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rs28937581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937581(G;T)
Make rs28937581(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71570300
GeneDYSF
is asnp
is mentioned by
dbSNPrs28937581
ebirs28937581
HLIrs28937581
Exacrs28937581
Varsomers28937581
Maprs28937581
PheGenIrs28937581
hapmaprs28937581
1000 genomesrs28937581
hgdprs28937581
ensemblrs28937581
gopubmedrs28937581
geneviewrs28937581
scholarrs28937581
googlers28937581
pharmgkbrs28937581
gwascentralrs28937581
openSNPrs28937581
23andMers28937581
23andMe allrs28937581
SNP Nexus

SNPshotrs28937581
SNPdbers28937581
MSV3drs28937581
GWAS Ctlgrs28937581
Max Magnitude0
OMIM603009
DescMIYOSHI MYOPATHY
Variant0010
Relatedalso


ClinVar
Risk rs28937581(T;T)
Alt rs28937581(T;T)
Reference rs28937581(G;G)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71797430G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007059.3, RCV000080261.3, RCV000176869.1,