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rs140108514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140108514(A;A)
Make rs140108514(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position71568083
GeneDYSF
is asnp
is mentioned by
dbSNPrs140108514
ebirs140108514
HLIrs140108514
Exacrs140108514
Varsomers140108514
Maprs140108514
PheGenIrs140108514
hapmaprs140108514
1000 genomesrs140108514
hgdprs140108514
ensemblrs140108514
gopubmedrs140108514
geneviewrs140108514
scholarrs140108514
googlers140108514
pharmgkbrs140108514
gwascentralrs140108514
openSNPrs140108514
23andMers140108514
23andMe allrs140108514
SNP Nexus

SNPshotrs140108514
SNPdbers140108514
MSV3drs140108514
GWAS Ctlgrs140108514
Max Magnitude0
ClinVar
Risk rs140108514(A;A)
Alt rs140108514(A;A)
Reference rs140108514(G;G)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71795213G>A
CLNSRC HGMD
CLNACC RCV000080255.3, RCV000176550.3, RCV000200599.1, RCV000229450.1, RCV000233433.1,