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rs398123799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123799(-;-)
Make rs398123799(-;A)
Make rs398123799(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position71681033
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123799
ebirs398123799
HLIrs398123799
Exacrs398123799
Varsomers398123799
Maprs398123799
PheGenIrs398123799
hapmaprs398123799
1000 genomesrs398123799
hgdprs398123799
ensemblrs398123799
gopubmedrs398123799
geneviewrs398123799
scholarrs398123799
googlers398123799
pharmgkbrs398123799
gwascentralrs398123799
openSNPrs398123799
23andMers398123799
23andMe allrs398123799
SNP Nexus

SNPshotrs398123799
SNPdbers398123799
MSV3drs398123799
GWAS Ctlgrs398123799
Max Magnitude0
ClinVar
Risk rs398123799(A;A)
Alt rs398123799(A;A)
Reference rs398123799(;)
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.71908163dupA
CLNSRC HGMD
CLNACC RCV000080318.3, RCV000179122.2,