Have questions? Visit https://www.reddit.com/r/SNPedia

rs58687088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAC;AAC) 0 common in clinvar
(ACA;ACA) 0 common in clinvar
Make rs58687088(-;-)
Make rs58687088(-;AAC)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421412
GeneDES, LOC100288941
is asnp
is mentioned by
dbSNPrs58687088
ebirs58687088
HLIrs58687088
Exacrs58687088
Varsomers58687088
Maprs58687088
PheGenIrs58687088
hapmaprs58687088
1000 genomesrs58687088
hgdprs58687088
ensemblrs58687088
gopubmedrs58687088
geneviewrs58687088
scholarrs58687088
googlers58687088
pharmgkbrs58687088
gwascentralrs58687088
openSNPrs58687088
23andMers58687088
23andMe allrs58687088
SNP Nexus

SNPshotrs58687088
SNPdbers58687088
MSV3drs58687088
GWAS Ctlgrs58687088
Max Magnitude0
OMIM125660
Desc
Variant0013
Relatedalso
ClinVar
Risk rs58687088(;)
Alt rs58687088(;)
Reference rs58687088(ACA;ACA)
Significance Pathogenic
Disease Myofibrillar myopathy 1 not provided
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220286134_220286136delAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018326.24, RCV000056771.1,