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rs794728991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6.5 Myofibrillar Myopathy
Make rs794728991(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position219425989
GeneDES
is asnp
is mentioned by
dbSNPrs794728991
dbSNP (classic)rs794728991
ClinGenrs794728991
ebirs794728991
HLIrs794728991
Exacrs794728991
Gnomadrs794728991
Varsomers794728991
LitVarrs794728991
Maprs794728991
PheGenIrs794728991
Biobankrs794728991
1000 genomesrs794728991
hgdprs794728991
ensemblrs794728991
geneviewrs794728991
scholarrs794728991
googlers794728991
pharmgkbrs794728991
gwascentralrs794728991
openSNPrs794728991
23andMers794728991
SNPshotrs794728991
SNPdbers794728991
MSV3drs794728991
GWAS Ctlgrs794728991
Max Magnitude6.5
ClinVar
Risk rs794728991(C;C)
Alt rs794728991(C;C)
Reference Rs794728991(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene DES LOC101928568
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.220290711A>C
CLNSRC
CLNACC RCV000183364.1,