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rs60798368

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60798368(C;T)
Make rs60798368(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position219418508
GeneDES
is asnp
is mentioned by
dbSNPrs60798368
ebirs60798368
HLIrs60798368
Exacrs60798368
Varsomers60798368
Maprs60798368
PheGenIrs60798368
hapmaprs60798368
1000 genomesrs60798368
hgdprs60798368
ensemblrs60798368
gopubmedrs60798368
geneviewrs60798368
scholarrs60798368
googlers60798368
pharmgkbrs60798368
gwascentralrs60798368
openSNPrs60798368
23andMers60798368
23andMe allrs60798368
SNP Nexus

SNPshotrs60798368
SNPdbers60798368
MSV3drs60798368
GWAS Ctlgrs60798368
Max Magnitude0
ClinVar
Risk rs60798368(T;T)
Alt rs60798368(T;T)
Reference rs60798368(C;C)
Significance Pathogenic
Disease not provided Myofibrillar myopathy
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy
Reversed 0
HGVS NC_000002.11:g.220283230C>T
CLNSRC
CLNACC RCV000056802.1, RCV000239680.1,