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rs398123763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123763(A;A)
Make rs398123763(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71520905
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123763
ebirs398123763
HLIrs398123763
Exacrs398123763
Varsomers398123763
Maprs398123763
PheGenIrs398123763
hapmaprs398123763
1000 genomesrs398123763
hgdprs398123763
ensemblrs398123763
gopubmedrs398123763
geneviewrs398123763
scholarrs398123763
googlers398123763
pharmgkbrs398123763
gwascentralrs398123763
openSNPrs398123763
23andMers398123763
23andMe allrs398123763
SNP Nexus

SNPshotrs398123763
SNPdbers398123763
MSV3drs398123763
GWAS Ctlgrs398123763
Max Magnitude0
ClinVar
Risk rs398123763(A;A)
Alt rs398123763(A;A)
Reference rs398123763(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.71748035G>A
CLNSRC ClinVar
CLNACC RCV000080225.3, RCV000174082.1,