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rs398123796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs398123796(-;-)
Make rs398123796(-;AG)
ReferenceGRCh38 38.1/141
Chromosome2
Position71674227
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123796
ebirs398123796
HLIrs398123796
Exacrs398123796
Varsomers398123796
Maprs398123796
PheGenIrs398123796
hapmaprs398123796
1000 genomesrs398123796
hgdprs398123796
ensemblrs398123796
gopubmedrs398123796
geneviewrs398123796
scholarrs398123796
googlers398123796
pharmgkbrs398123796
gwascentralrs398123796
openSNPrs398123796
23andMers398123796
23andMe allrs398123796
SNP Nexus

SNPshotrs398123796
SNPdbers398123796
MSV3drs398123796
GWAS Ctlgrs398123796
Max Magnitude0
ClinVar
Risk rs398123796(;)
Alt rs398123796(;)
Reference rs398123796(GA;GA)
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.71901357_71901358delAG
CLNSRC HGMD
CLNACC RCV000080310.3, RCV000179090.1,