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rs398123782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123782(-;-)
Make rs398123782(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71511817
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123782
ebirs398123782
HLIrs398123782
Exacrs398123782
Varsomers398123782
Maprs398123782
PheGenIrs398123782
hapmaprs398123782
1000 genomesrs398123782
hgdprs398123782
ensemblrs398123782
gopubmedrs398123782
geneviewrs398123782
scholarrs398123782
googlers398123782
pharmgkbrs398123782
gwascentralrs398123782
openSNPrs398123782
23andMers398123782
23andMe allrs398123782
SNP Nexus

SNPshotrs398123782
SNPdbers398123782
MSV3drs398123782
GWAS Ctlgrs398123782
Max Magnitude0
ClinVar
Risk rs398123782(;)
Alt rs398123782(;)
Reference rs398123782(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.71738947delT
CLNSRC HGMD
CLNACC RCV000080274.3, RCV000178878.2,