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rs141137410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141137410(G;T)
Make rs141137410(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position71664407
GeneDYSF
is asnp
is mentioned by
dbSNPrs141137410
dbSNP (old)rs141137410
ClinGenrs141137410
ebirs141137410
HLIrs141137410
Exacrs141137410
Gnomadrs141137410
Varsomers141137410
Maprs141137410
PheGenIrs141137410
Biobankrs141137410
1000 genomesrs141137410
hgdprs141137410
ensemblrs141137410
gopubmedrs141137410
geneviewrs141137410
scholarrs141137410
googlers141137410
pharmgkbrs141137410
gwascentralrs141137410
openSNPrs141137410
23andMers141137410
23andMe allrs141137410
SNPshotrs141137410
SNPdbers141137410
MSV3drs141137410
GWAS Ctlgrs141137410
Max Magnitude0
ClinVar
Risk rs141137410(T;T)
Alt rs141137410(T;T)
Reference Rs141137410(G;G)
Significance Probable-Pathogenic
Disease Miyoshi myopathy Limb-Girdle Muscular Dystrophy not specified not provided
Variation info
Gene DYSF
CLNDBN Miyoshi myopathy Limb-Girdle Muscular Dystrophy, Recessive not specified not provided
Reversed 0
HGVS NC_000002.11:g.71891537G>T
CLNSRC
CLNACC RCV000310014.1, RCV000362344.1, RCV000388999.1, RCV000493108.1,