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rs863225021

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225021(C;T)
Make rs863225021(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71665181
GeneDYSF
is asnp
is mentioned by
dbSNPrs863225021
ebirs863225021
HLIrs863225021
Exacrs863225021
Varsomers863225021
Maprs863225021
PheGenIrs863225021
hapmaprs863225021
1000 genomesrs863225021
hgdprs863225021
ensemblrs863225021
gopubmedrs863225021
geneviewrs863225021
scholarrs863225021
googlers863225021
pharmgkbrs863225021
gwascentralrs863225021
openSNPrs863225021
23andMers863225021
23andMe allrs863225021
SNP Nexus

SNPshotrs863225021
SNPdbers863225021
MSV3drs863225021
GWAS Ctlgrs863225021
Max Magnitude0
ClinVar
Risk rs863225021(T;T)
Alt rs863225021(T;T)
Reference rs863225021(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71892311C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201092.1,