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rs730880289

From SNPedia

Orientationplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs730880289(-;-)
Make rs730880289(-;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219420158
GeneDES
is asnp
is mentioned by
dbSNPrs730880289
ebirs730880289
HLIrs730880289
Exacrs730880289
Varsomers730880289
Maprs730880289
PheGenIrs730880289
hapmaprs730880289
1000 genomesrs730880289
hgdprs730880289
ensemblrs730880289
gopubmedrs730880289
geneviewrs730880289
scholarrs730880289
googlers730880289
pharmgkbrs730880289
gwascentralrs730880289
openSNPrs730880289
23andMers730880289
23andMe allrs730880289
SNP Nexus

SNPshotrs730880289
SNPdbers730880289
MSV3drs730880289
GWAS Ctlgrs730880289
Max Magnitude0
ClinVar
Risk rs730880289(;)
Alt rs730880289(;)
Reference rs730880289(GA;GA)
Significance Pathogenic
Disease Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220284880_220284881delGA
CLNSRC
CLNACC RCV000157059.2,