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rs398123777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCAG;ACCAG) 0 common in clinvar
(AGACC;AGACC) 0 common in clinvar
Make rs398123777(-;-)
Make rs398123777(-;AGACC)
ReferenceGRCh38 38.1/141
Chromosome2
Position71569879
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123777
ebirs398123777
HLIrs398123777
Exacrs398123777
Varsomers398123777
Maprs398123777
PheGenIrs398123777
hapmaprs398123777
1000 genomesrs398123777
hgdprs398123777
ensemblrs398123777
gopubmedrs398123777
geneviewrs398123777
scholarrs398123777
googlers398123777
pharmgkbrs398123777
gwascentralrs398123777
openSNPrs398123777
23andMers398123777
23andMe allrs398123777
SNP Nexus

SNPshotrs398123777
SNPdbers398123777
MSV3drs398123777
GWAS Ctlgrs398123777
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs398123777(ACCAG;ACCAG)
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.71797009_71797013delAGACC
CLNSRC ClinVar
CLNACC RCV000080260.3, RCV000176737.1,