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rs57639980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57639980(C;C)
Make rs57639980(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421350
GeneDES
is asnp
is mentioned by
dbSNPrs57639980
ebirs57639980
HLIrs57639980
Exacrs57639980
Varsomers57639980
Maprs57639980
PheGenIrs57639980
hapmaprs57639980
1000 genomesrs57639980
hgdprs57639980
ensemblrs57639980
gopubmedrs57639980
geneviewrs57639980
scholarrs57639980
googlers57639980
pharmgkbrs57639980
gwascentralrs57639980
openSNPrs57639980
23andMers57639980
23andMe allrs57639980
SNP Nexus

SNPshotrs57639980
SNPdbers57639980
MSV3drs57639980
GWAS Ctlgrs57639980
Max Magnitude0
OMIM125660
Desc
Variant0006
Relatedalso


ClinVar
Risk rs57639980(C;C)
Alt rs57639980(C;C)
Reference rs57639980(T;T)
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.220286072T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018319.28, RCV000056765.1,