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rs398123793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123793(G;T)
Make rs398123793(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71668843
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123793
ebirs398123793
HLIrs398123793
Exacrs398123793
Varsomers398123793
Maprs398123793
PheGenIrs398123793
hapmaprs398123793
1000 genomesrs398123793
hgdprs398123793
ensemblrs398123793
gopubmedrs398123793
geneviewrs398123793
scholarrs398123793
googlers398123793
pharmgkbrs398123793
gwascentralrs398123793
openSNPrs398123793
23andMers398123793
23andMe allrs398123793
SNP Nexus

SNPshotrs398123793
SNPdbers398123793
MSV3drs398123793
GWAS Ctlgrs398123793
Max Magnitude0
ClinVar
Risk rs398123793(T;T)
Alt rs398123793(T;T)
Reference rs398123793(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.71895973G>T
CLNSRC ClinVar
CLNACC RCV000080303.3, RCV000178661.1,