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rs398123769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123769(A;G)
Make rs398123769(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71539155
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123769
ebirs398123769
HLIrs398123769
Exacrs398123769
Varsomers398123769
Maprs398123769
PheGenIrs398123769
hapmaprs398123769
1000 genomesrs398123769
hgdprs398123769
ensemblrs398123769
gopubmedrs398123769
geneviewrs398123769
scholarrs398123769
googlers398123769
pharmgkbrs398123769
gwascentralrs398123769
openSNPrs398123769
23andMers398123769
23andMe allrs398123769
SNP Nexus

SNPshotrs398123769
SNPdbers398123769
MSV3drs398123769
GWAS Ctlgrs398123769
Max Magnitude0
ClinVar
Risk rs398123769(G;G)
Alt rs398123769(G;G)
Reference rs398123769(A;A)
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.71766285A>G
CLNSRC ClinVar
CLNACC RCV000080236.3, RCV000175042.1,