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rs267607495

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607495(C;T)
Make rs267607495(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219418497
GeneDES
is asnp
is mentioned by
dbSNPrs267607495
ebirs267607495
HLIrs267607495
Exacrs267607495
Varsomers267607495
Maprs267607495
PheGenIrs267607495
hapmaprs267607495
1000 genomesrs267607495
hgdprs267607495
ensemblrs267607495
gopubmedrs267607495
geneviewrs267607495
scholarrs267607495
googlers267607495
pharmgkbrs267607495
gwascentralrs267607495
openSNPrs267607495
23andMers267607495
23andMe allrs267607495
SNP Nexus

SNPshotrs267607495
SNPdbers267607495
MSV3drs267607495
GWAS Ctlgrs267607495
Max Magnitude0
ClinVar
Risk rs267607495(T;T)
Alt rs267607495(T;T)
Reference rs267607495(C;C)
Significance Probable-Pathogenic
Disease not provided Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220283219C>T
CLNSRC
CLNACC RCV000056800.1, RCV000154600.1,