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rs398123768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123768(A;A)
Make rs398123768(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71539156
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123768
ebirs398123768
HLIrs398123768
Exacrs398123768
Varsomers398123768
Maprs398123768
PheGenIrs398123768
hapmaprs398123768
1000 genomesrs398123768
hgdprs398123768
ensemblrs398123768
gopubmedrs398123768
geneviewrs398123768
scholarrs398123768
googlers398123768
pharmgkbrs398123768
gwascentralrs398123768
openSNPrs398123768
23andMers398123768
23andMe allrs398123768
SNP Nexus

SNPshotrs398123768
SNPdbers398123768
MSV3drs398123768
GWAS Ctlgrs398123768
Max Magnitude0
ClinVar
Risk rs398123768(A;A)
Alt rs398123768(A;A)
Reference rs398123768(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.71766286G>A
CLNSRC ClinVar
CLNACC RCV000080235.3, RCV000175043.1,