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rs398123771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123771(A;A)
Make rs398123771(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71551158
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123771
ebirs398123771
HLIrs398123771
Exacrs398123771
Varsomers398123771
Maprs398123771
PheGenIrs398123771
hapmaprs398123771
1000 genomesrs398123771
hgdprs398123771
ensemblrs398123771
gopubmedrs398123771
geneviewrs398123771
scholarrs398123771
googlers398123771
pharmgkbrs398123771
gwascentralrs398123771
openSNPrs398123771
23andMers398123771
23andMe allrs398123771
SNP Nexus

SNPshotrs398123771
SNPdbers398123771
MSV3drs398123771
GWAS Ctlgrs398123771
Max Magnitude0
ClinVar
Risk rs398123771(A;A)
Alt rs398123771(A;A)
Reference rs398123771(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.71778288T>A
CLNSRC ClinVar
CLNACC RCV000080239.3, RCV000175304.1,