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rs398123795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123795(C;T)
Make rs398123795(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71669723
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123795
ebirs398123795
HLIrs398123795
Exacrs398123795
Varsomers398123795
Maprs398123795
PheGenIrs398123795
hapmaprs398123795
1000 genomesrs398123795
hgdprs398123795
ensemblrs398123795
gopubmedrs398123795
geneviewrs398123795
scholarrs398123795
googlers398123795
pharmgkbrs398123795
gwascentralrs398123795
openSNPrs398123795
23andMers398123795
23andMe allrs398123795
SNP Nexus

SNPshotrs398123795
SNPdbers398123795
MSV3drs398123795
GWAS Ctlgrs398123795
Max Magnitude0
ClinVar
Risk rs398123795(T;T)
Alt rs398123795(T;T)
Reference rs398123795(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.71896853C>T
CLNSRC ClinVar Emory University
CLNACC RCV000080308.3, RCV000179069.1,