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rs398123764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs398123764(-;-)
Make rs398123764(-;AA)
ReferenceGRCh38 38.1/141
Chromosome2
Position71480901
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123764
ebirs398123764
HLIrs398123764
Exacrs398123764
Varsomers398123764
Maprs398123764
PheGenIrs398123764
hapmaprs398123764
1000 genomesrs398123764
hgdprs398123764
ensemblrs398123764
gopubmedrs398123764
geneviewrs398123764
scholarrs398123764
googlers398123764
pharmgkbrs398123764
gwascentralrs398123764
openSNPrs398123764
23andMers398123764
23andMe allrs398123764
SNP Nexus

SNPshotrs398123764
SNPdbers398123764
MSV3drs398123764
GWAS Ctlgrs398123764
Max Magnitude0
ClinVar
Risk rs398123764(;)
Alt rs398123764(;)
Reference rs398123764(AA;AA)
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.71708031_71708032delAA
CLNSRC HGMD
CLNACC RCV000080226.3, RCV000175751.1,