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rs1057516724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516724(-;T)
Make rs1057516724(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position71590285
GeneDYSF
is asnp
is mentioned by
dbSNPrs1057516724
dbSNP (old)rs1057516724
ClinGenrs1057516724
ebirs1057516724
HLIrs1057516724
Exacrs1057516724
Gnomadrs1057516724
Varsomers1057516724
Maprs1057516724
PheGenIrs1057516724
Biobankrs1057516724
1000 genomesrs1057516724
hgdprs1057516724
ensemblrs1057516724
gopubmedrs1057516724
geneviewrs1057516724
scholarrs1057516724
googlers1057516724
pharmgkbrs1057516724
gwascentralrs1057516724
openSNPrs1057516724
23andMers1057516724
23andMe allrs1057516724
SNPshotrs1057516724
SNPdbers1057516724
MSV3drs1057516724
GWAS Ctlgrs1057516724
Max Magnitude0
ClinVar
Risk rs1057516724(T;T)
Alt rs1057516724(T;T)
Reference Rs1057516724(-;-)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71817415dupT
CLNSRC
CLNACC RCV000410481.1,