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rs727503912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503912(C;T)
Make rs727503912(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71667441
GeneDYSF
is asnp
is mentioned by
dbSNPrs727503912
dbSNP (old)rs727503912
ClinGenrs727503912
ebirs727503912
HLIrs727503912
Exacrs727503912
Varsomers727503912
Maprs727503912
PheGenIrs727503912
Biobankrs727503912
1000 genomesrs727503912
hgdprs727503912
ensemblrs727503912
gopubmedrs727503912
geneviewrs727503912
scholarrs727503912
googlers727503912
pharmgkbrs727503912
gwascentralrs727503912
openSNPrs727503912
23andMers727503912
23andMe allrs727503912
SNP Nexus

SNPshotrs727503912
SNPdbers727503912
MSV3drs727503912
GWAS Ctlgrs727503912
Max Magnitude0
ClinVar
Risk rs727503912(T;T)
Alt rs727503912(T;T)
Reference Rs727503912(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71894571C>T
CLNSRC
CLNACC RCV000153184.2, RCV000178626.1, RCV000389032.1,