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rs57955682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57955682(C;C)
Make rs57955682(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421470
GeneDES
is asnp
is mentioned by
dbSNPrs57955682
ebirs57955682
HLIrs57955682
Exacrs57955682
Varsomers57955682
Maprs57955682
PheGenIrs57955682
hapmaprs57955682
1000 genomesrs57955682
hgdprs57955682
ensemblrs57955682
gopubmedrs57955682
geneviewrs57955682
scholarrs57955682
googlers57955682
pharmgkbrs57955682
gwascentralrs57955682
openSNPrs57955682
23andMers57955682
23andMe allrs57955682
SNP Nexus

SNPshotrs57955682
SNPdbers57955682
MSV3drs57955682
GWAS Ctlgrs57955682
Max Magnitude0
OMIM125660
Desc
Variant0010
Relatedalso


ClinVar
Risk rs57955682(C;C)
Alt rs57955682(C;C)
Reference rs57955682(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.220286192T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018323.28, RCV000056775.1,