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rs398123789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123789(C;T)
Make rs398123789(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71658995
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123789
ebirs398123789
HLIrs398123789
Exacrs398123789
Varsomers398123789
Maprs398123789
PheGenIrs398123789
hapmaprs398123789
1000 genomesrs398123789
hgdprs398123789
ensemblrs398123789
gopubmedrs398123789
geneviewrs398123789
scholarrs398123789
googlers398123789
pharmgkbrs398123789
gwascentralrs398123789
openSNPrs398123789
23andMers398123789
23andMe allrs398123789
SNP Nexus

SNPshotrs398123789
SNPdbers398123789
MSV3drs398123789
GWAS Ctlgrs398123789
Max Magnitude0
ClinVar
Risk rs398123789(T;T)
Alt rs398123789(T;T)
Reference rs398123789(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71886125C>T
CLNSRC HGMD
CLNACC RCV000080296.3, RCV000178524.1, RCV000178525.1,