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rs202044973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202044973(C;T)
Make rs202044973(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71535282
GeneDYSF
is asnp
is mentioned by
dbSNPrs202044973
ebirs202044973
HLIrs202044973
Exacrs202044973
Varsomers202044973
Maprs202044973
PheGenIrs202044973
hapmaprs202044973
1000 genomesrs202044973
hgdprs202044973
ensemblrs202044973
gopubmedrs202044973
geneviewrs202044973
scholarrs202044973
googlers202044973
pharmgkbrs202044973
gwascentralrs202044973
openSNPrs202044973
23andMers202044973
23andMe allrs202044973
SNP Nexus

SNPshotrs202044973
SNPdbers202044973
MSV3drs202044973
GWAS Ctlgrs202044973
GMAF0.0
Max Magnitude0
ClinVar
Risk rs202044973(A,T;A,T)
Alt rs202044973(A,T;A,T)
Reference rs202044973(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71762412C>A
CLNSRC ClinVar Emory University
CLNACC RCV000080232.3, RCV000174882.1,