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rs398123794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123794(A;A)
Make rs398123794(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71669191
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123794
ebirs398123794
HLIrs398123794
Exacrs398123794
Varsomers398123794
Maprs398123794
PheGenIrs398123794
hapmaprs398123794
1000 genomesrs398123794
hgdprs398123794
ensemblrs398123794
gopubmedrs398123794
geneviewrs398123794
scholarrs398123794
googlers398123794
pharmgkbrs398123794
gwascentralrs398123794
openSNPrs398123794
23andMers398123794
23andMe allrs398123794
SNP Nexus

SNPshotrs398123794
SNPdbers398123794
MSV3drs398123794
GWAS Ctlgrs398123794
Max Magnitude0
ClinVar
Risk rs398123794(A;A)
Alt rs398123794(A;A)
Reference rs398123794(G;G)
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.71896321G>A
CLNSRC HGMD
CLNACC RCV000080306.3, RCV000178688.1,