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rs267607485

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607485(A;C)
Make rs267607485(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position219425720
GeneDES
is asnp
is mentioned by
dbSNPrs267607485
ebirs267607485
HLIrs267607485
Exacrs267607485
Varsomers267607485
Maprs267607485
PheGenIrs267607485
hapmaprs267607485
1000 genomesrs267607485
hgdprs267607485
ensemblrs267607485
gopubmedrs267607485
geneviewrs267607485
scholarrs267607485
googlers267607485
pharmgkbrs267607485
gwascentralrs267607485
openSNPrs267607485
23andMers267607485
23andMe allrs267607485
SNP Nexus

SNPshotrs267607485
SNPdbers267607485
MSV3drs267607485
GWAS Ctlgrs267607485
Max Magnitude0
ClinVar
Risk rs267607485(C;C)
Alt rs267607485(C;C)
Reference rs267607485(A;A)
Significance Pathogenic
Disease not provided Myofibrillar myopathy
Variation info
Gene DES LOC101928568
CLNDBN not provided Myofibrillar myopathy
Reversed 0
HGVS NC_000002.11:g.220290442A>C
CLNSRC
CLNACC RCV000056786.1, RCV000239724.1,