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rs398123798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123798(A;A)
Make rs398123798(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71679236
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123798
ebirs398123798
HLIrs398123798
Exacrs398123798
Varsomers398123798
Maprs398123798
PheGenIrs398123798
hapmaprs398123798
1000 genomesrs398123798
hgdprs398123798
ensemblrs398123798
gopubmedrs398123798
geneviewrs398123798
scholarrs398123798
googlers398123798
pharmgkbrs398123798
gwascentralrs398123798
openSNPrs398123798
23andMers398123798
23andMe allrs398123798
SNP Nexus

SNPshotrs398123798
SNPdbers398123798
MSV3drs398123798
GWAS Ctlgrs398123798
Max Magnitude0
ClinVar
Risk rs398123798(A;A)
Alt rs398123798(A;A)
Reference rs398123798(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.71906366G>A
CLNSRC HGMD
CLNACC RCV000080316.3, RCV000179105.1,