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rs863225019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225019(-;GGACTTGCCGCAGAG)
Make rs863225019(GGACTTGCCGCAGAG;GGACTTGCCGCAGAG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71526347
GeneDYSF
is asnp
is mentioned by
dbSNPrs863225019
dbSNP (old)rs863225019
ClinGenrs863225019
ebirs863225019
HLIrs863225019
Exacrs863225019
Varsomers863225019
Maprs863225019
PheGenIrs863225019
Biobankrs863225019
1000 genomesrs863225019
hgdprs863225019
ensemblrs863225019
gopubmedrs863225019
geneviewrs863225019
scholarrs863225019
googlers863225019
pharmgkbrs863225019
gwascentralrs863225019
openSNPrs863225019
23andMers863225019
23andMe allrs863225019
SNP Nexus

SNPshotrs863225019
SNPdbers863225019
MSV3drs863225019
GWAS Ctlgrs863225019
Max Magnitude0
ClinVar
Risk rs863225019(GGACTTGCCGCAGAG;GGACTTGCCGCAGAG)
Alt rs863225019(GGACTTGCCGCAGAG;GGACTTGCCGCAGAG)
Reference Rs863225019(-;-)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71753463_71753477dupGGACTTGCCGCAGAG
CLNSRC Quest Diagnostics
CLNACC RCV000201130.1,