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rs76086153

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs76086153(A;C)
Make rs76086153(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71656229
GeneDYSF
is asnp
is mentioned by
dbSNPrs76086153
ebirs76086153
HLIrs76086153
Exacrs76086153
Varsomers76086153
Maprs76086153
PheGenIrs76086153
hapmaprs76086153
1000 genomesrs76086153
hgdprs76086153
ensemblrs76086153
gopubmedrs76086153
geneviewrs76086153
scholarrs76086153
googlers76086153
pharmgkbrs76086153
gwascentralrs76086153
openSNPrs76086153
23andMers76086153
23andMe allrs76086153
SNP Nexus

SNPshotrs76086153
SNPdbers76086153
MSV3drs76086153
GWAS Ctlgrs76086153
Max Magnitude0
ClinVar
Risk rs76086153(C;C)
Alt rs76086153(C;C)
Reference rs76086153(A;A)
Significance Probable-Pathogenic
Disease not provided not specified Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided not specified Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71883359A>C
CLNSRC HGMD
CLNACC RCV000080293.4, RCV000193503.1, RCV000200599.1,