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rs267607483

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607483(A;G)
Make rs267607483(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219420349
GeneDES
is asnp
is mentioned by
dbSNPrs267607483
ebirs267607483
HLIrs267607483
Exacrs267607483
Varsomers267607483
Maprs267607483
PheGenIrs267607483
hapmaprs267607483
1000 genomesrs267607483
hgdprs267607483
ensemblrs267607483
gopubmedrs267607483
geneviewrs267607483
scholarrs267607483
googlers267607483
pharmgkbrs267607483
gwascentralrs267607483
openSNPrs267607483
23andMers267607483
23andMe allrs267607483
SNP Nexus

SNPshotrs267607483
SNPdbers267607483
MSV3drs267607483
GWAS Ctlgrs267607483
Max Magnitude0
ClinVar
Risk rs267607483(G;G)
Alt rs267607483(G;G)
Reference rs267607483(A;A)
Significance Pathogenic
Disease not provided Myofibrillar myopathy
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy
Reversed 0
HGVS NC_000002.11:g.220285071A>G
CLNSRC
CLNACC RCV000056810.1, RCV000154574.1,