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rs373585652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373585652(C;T)
Make rs373585652(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71513868
GeneDYSF
is asnp
is mentioned by
dbSNPrs373585652
ebirs373585652
HLIrs373585652
Exacrs373585652
Varsomers373585652
Maprs373585652
PheGenIrs373585652
hapmaprs373585652
1000 genomesrs373585652
hgdprs373585652
ensemblrs373585652
gopubmedrs373585652
geneviewrs373585652
scholarrs373585652
googlers373585652
pharmgkbrs373585652
gwascentralrs373585652
openSNPrs373585652
23andMers373585652
23andMe allrs373585652
SNP Nexus

SNPshotrs373585652
SNPdbers373585652
MSV3drs373585652
GWAS Ctlgrs373585652
Max Magnitude0
ClinVar
Risk rs373585652(G,T;G,T)
Alt rs373585652(G,T;G,T)
Reference rs373585652(C;C)
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.71740998C>T
CLNSRC HGMD
CLNACC RCV000080319.3, RCV000179424.1,