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rs398123765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123765(C;C)
Make rs398123765(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71528403
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123765
ebirs398123765
HLIrs398123765
Exacrs398123765
Varsomers398123765
Maprs398123765
PheGenIrs398123765
hapmaprs398123765
1000 genomesrs398123765
hgdprs398123765
ensemblrs398123765
gopubmedrs398123765
geneviewrs398123765
scholarrs398123765
googlers398123765
pharmgkbrs398123765
gwascentralrs398123765
openSNPrs398123765
23andMers398123765
23andMe allrs398123765
SNP Nexus

SNPshotrs398123765
SNPdbers398123765
MSV3drs398123765
GWAS Ctlgrs398123765
Max Magnitude0
ClinVar
Risk rs398123765(C;C)
Alt rs398123765(C;C)
Reference rs398123765(T;T)
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.71755533T>C
CLNSRC HGMD
CLNACC RCV000080229.3, RCV000174526.1,