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rs377735262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377735262(C;T)
Make rs377735262(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71551631
GeneDYSF
is asnp
is mentioned by
dbSNPrs377735262
dbSNP (classic)rs377735262
ClinGenrs377735262
ebirs377735262
HLIrs377735262
Exacrs377735262
Gnomadrs377735262
Varsomers377735262
LitVarrs377735262
Maprs377735262
PheGenIrs377735262
Biobankrs377735262
1000 genomesrs377735262
hgdprs377735262
ensemblrs377735262
geneviewrs377735262
scholarrs377735262
googlers377735262
pharmgkbrs377735262
gwascentralrs377735262
openSNPrs377735262
23andMers377735262
SNPshotrs377735262
SNPdbers377735262
MSV3drs377735262
GWAS Ctlgrs377735262
Max Magnitude0
ClinVar
Risk rs377735262(T;T)
Alt rs377735262(T;T)
Reference Rs377735262(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 DYSF-Related Disorders
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 DYSF-Related Disorders
Reversed 0
HGVS NC_000002.11:g.71778761C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000080241.3, RCV000175435.2, RCV000289725.1, RCV000391157.1,