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rs794728987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728987(C;T)
Make rs794728987(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position219420906
GeneDES
is asnp
is mentioned by
dbSNPrs794728987
dbSNP (old)rs794728987
ClinGenrs794728987
ebirs794728987
HLIrs794728987
Exacrs794728987
Gnomadrs794728987
Varsomers794728987
Maprs794728987
PheGenIrs794728987
Biobankrs794728987
1000 genomesrs794728987
hgdprs794728987
ensemblrs794728987
gopubmedrs794728987
geneviewrs794728987
scholarrs794728987
googlers794728987
pharmgkbrs794728987
gwascentralrs794728987
openSNPrs794728987
23andMers794728987
23andMe allrs794728987
SNP Nexus

SNPshotrs794728987
SNPdbers794728987
MSV3drs794728987
GWAS Ctlgrs794728987
Max Magnitude0
ClinVar
Risk rs794728987(T;T)
Alt rs794728987(T;T)
Reference Rs794728987(C;C)
Significance Probable-Pathogenic
Disease not specified Muscular dystrophy Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN not specified Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220285628C>T
CLNSRC
CLNACC RCV000183352.3, RCV000459000.1,