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rs863225020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225020(-;A)
Make rs863225020(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71481898
GeneDYSF
is asnp
is mentioned by
dbSNPrs863225020
ClinGenrs863225020
ebirs863225020
HLIrs863225020
Exacrs863225020
Varsomers863225020
Maprs863225020
PheGenIrs863225020
hapmaprs863225020
1000 genomesrs863225020
hgdprs863225020
ensemblrs863225020
gopubmedrs863225020
geneviewrs863225020
scholarrs863225020
googlers863225020
pharmgkbrs863225020
gwascentralrs863225020
openSNPrs863225020
23andMers863225020
23andMe allrs863225020
SNP Nexus

SNPshotrs863225020
SNPdbers863225020
MSV3drs863225020
GWAS Ctlgrs863225020
Max Magnitude0
ClinVar
Risk rs863225020(A;A)
Alt rs863225020(A;A)
Reference Rs863225020(-;-)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71709028dupA
CLNSRC Quest Diagnostics
CLNACC RCV000201017.2, RCV000300720.1,