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rs2288355

From SNPedia

Orientationminus
Stabilizedminus
Make rs2288355(A;A)
Make rs2288355(A;T)
Make rs2288355(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71568022
GeneDYSF
is asnp
is mentioned by
dbSNPrs2288355
dbSNP (classic)rs2288355
ClinGenrs2288355
ebirs2288355
HLIrs2288355
Exacrs2288355
Gnomadrs2288355
Varsomers2288355
LitVarrs2288355
Maprs2288355
PheGenIrs2288355
Biobankrs2288355
1000 genomesrs2288355
hgdprs2288355
ensemblrs2288355
geneviewrs2288355
scholarrs2288355
googlers2288355
pharmgkbrs2288355
gwascentralrs2288355
openSNPrs2288355
23andMers2288355
SNPshotrs2288355
SNPdbers2288355
MSV3drs2288355
GWAS Ctlgrs2288355
Max Magnitude0
? (A;A) (A;T) (T;T) 28


ClinVar
Risk rs2288355(A;A)
Alt rs2288355(A;A)
Reference rs2288355(T;T)
Significance Other
Disease not specified Limb-Girdle Muscular Dystrophy Miyoshi myopathy
Variation info
Gene DYSF
CLNDBN not specified Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy
Reversed 1
HGVS NC_000002.11:g.71795152A>T
CLNSRC
CLNACC RCV000080254.10, RCV000283608.1, RCV000378035.1,