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rs398123772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123772(-;-)
Make rs398123772(-;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71551610
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123772
ebirs398123772
HLIrs398123772
Exacrs398123772
Varsomers398123772
Maprs398123772
PheGenIrs398123772
hapmaprs398123772
1000 genomesrs398123772
hgdprs398123772
ensemblrs398123772
gopubmedrs398123772
geneviewrs398123772
scholarrs398123772
googlers398123772
pharmgkbrs398123772
gwascentralrs398123772
openSNPrs398123772
23andMers398123772
23andMe allrs398123772
SNP Nexus

SNPshotrs398123772
SNPdbers398123772
MSV3drs398123772
GWAS Ctlgrs398123772
Max Magnitude0
ClinVar
Risk rs398123772(;)
Alt rs398123772(;)
Reference rs398123772(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.71778740delG
CLNSRC HGMD
CLNACC RCV000080240.3, RCV000175436.1,