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rs398123780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs398123780(-;-)
Make rs398123780(-;GT)
ReferenceGRCh38 38.1/141
Chromosome2
Position71574350
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123780
ebirs398123780
HLIrs398123780
Exacrs398123780
Varsomers398123780
Maprs398123780
PheGenIrs398123780
hapmaprs398123780
1000 genomesrs398123780
hgdprs398123780
ensemblrs398123780
gopubmedrs398123780
geneviewrs398123780
scholarrs398123780
googlers398123780
pharmgkbrs398123780
gwascentralrs398123780
openSNPrs398123780
23andMers398123780
23andMe allrs398123780
SNP Nexus

SNPshotrs398123780
SNPdbers398123780
MSV3drs398123780
GWAS Ctlgrs398123780
Max Magnitude0
ClinVar
Risk rs398123780(;)
Alt rs398123780(;)
Reference rs398123780(TG;TG)
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.71801480_71801481delGT
CLNSRC ClinVar
CLNACC RCV000080269.3, RCV000177466.1,