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rs267607482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607482(A;G)
Make rs267607482(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position219421340
GeneDES
is asnp
is mentioned by
dbSNPrs267607482
ebirs267607482
HLIrs267607482
Exacrs267607482
Varsomers267607482
Maprs267607482
PheGenIrs267607482
hapmaprs267607482
1000 genomesrs267607482
hgdprs267607482
ensemblrs267607482
gopubmedrs267607482
geneviewrs267607482
scholarrs267607482
googlers267607482
pharmgkbrs267607482
gwascentralrs267607482
openSNPrs267607482
23andMers267607482
23andMe allrs267607482
SNP Nexus

SNPshotrs267607482
SNPdbers267607482
MSV3drs267607482
GWAS Ctlgrs267607482
Max Magnitude0
ClinVar
Risk rs267607482(G;G)
Alt rs267607482(G;G)
Reference rs267607482(A;A)
Significance Pathogenic
Disease not provided Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220286062A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000056764.1, RCV000133502.2,