Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs398123781(AA;AA)
Make rs398123781(AA;TG)
ReferenceGRCh38 38.1/141
Chromosome2
Position71590212
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123781
ebirs398123781
HLIrs398123781
Exacrs398123781
Varsomers398123781
Maprs398123781
PheGenIrs398123781
hapmaprs398123781
1000 genomesrs398123781
hgdprs398123781
ensemblrs398123781
gopubmedrs398123781
geneviewrs398123781
scholarrs398123781
googlers398123781
pharmgkbrs398123781
gwascentralrs398123781
openSNPrs398123781
23andMers398123781
23andMe allrs398123781
SNP Nexus

SNPshotrs398123781
SNPdbers398123781
MSV3drs398123781
GWAS Ctlgrs398123781
Max Magnitude0
ClinVar
Risk rs398123781(AA;AA)
Alt rs398123781(AA;AA)
Reference rs398123781(TG;TG)
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.71817342_71817343delTGinsAA
CLNSRC HGMD
CLNACC RCV000080271.3, RCV000177648.1,