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rs398123783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123783(-;-)
Make rs398123783(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position71598684
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123783
ebirs398123783
HLIrs398123783
Exacrs398123783
Varsomers398123783
Maprs398123783
PheGenIrs398123783
hapmaprs398123783
1000 genomesrs398123783
hgdprs398123783
ensemblrs398123783
gopubmedrs398123783
geneviewrs398123783
scholarrs398123783
googlers398123783
pharmgkbrs398123783
gwascentralrs398123783
openSNPrs398123783
23andMers398123783
23andMe allrs398123783
SNP Nexus

SNPshotrs398123783
SNPdbers398123783
MSV3drs398123783
GWAS Ctlgrs398123783
Max Magnitude0
ClinVar
Risk rs398123783(;)
Alt rs398123783(;)
Reference rs398123783(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.71825814delC
CLNSRC ClinVar
CLNACC RCV000080275.3, RCV000177737.1,