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rs766016391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs766016391(A;A)
Make rs766016391(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71643988
GeneDYSF
is asnp
is mentioned by
dbSNPrs766016391
dbSNP (classic)rs766016391
ClinGenrs766016391
ebirs766016391
HLIrs766016391
Exacrs766016391
Gnomadrs766016391
Varsomers766016391
LitVarrs766016391
Maprs766016391
PheGenIrs766016391
Biobankrs766016391
1000 genomesrs766016391
hgdprs766016391
ensemblrs766016391
geneviewrs766016391
scholarrs766016391
googlers766016391
pharmgkbrs766016391
gwascentralrs766016391
openSNPrs766016391
23andMers766016391
SNPshotrs766016391
SNPdbers766016391
MSV3drs766016391
GWAS Ctlgrs766016391
Max Magnitude0
ClinVar
Risk rs766016391(A;A)
Alt rs766016391(A;A)
Reference Rs766016391(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71871118G>A
CLNSRC
CLNACC RCV000178461.1, RCV000398484.1,