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rs267607490

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607490(C;T)
Make rs267607490(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219425734
GeneDES
is asnp
is mentioned by
dbSNPrs267607490
ebirs267607490
HLIrs267607490
Exacrs267607490
Varsomers267607490
Maprs267607490
PheGenIrs267607490
hapmaprs267607490
1000 genomesrs267607490
hgdprs267607490
ensemblrs267607490
gopubmedrs267607490
geneviewrs267607490
scholarrs267607490
googlers267607490
pharmgkbrs267607490
gwascentralrs267607490
openSNPrs267607490
23andMers267607490
23andMe allrs267607490
SNP Nexus

SNPshotrs267607490
SNPdbers267607490
MSV3drs267607490
GWAS Ctlgrs267607490
Max Magnitude0
ClinVar
Risk rs267607490(T;T)
Alt rs267607490(T;T)
Reference rs267607490(C;C)
Significance Probable-Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy Myofibrillar myopathy 1
Variation info
Gene DES LOC101928568
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220290456C>T
CLNSRC
CLNACC RCV000056789.1, RCV000155027.3, RCV000211712.2,