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rs267607499

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607499(A;G)
Make rs267607499(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219418809
GeneDES
is asnp
is mentioned by
dbSNPrs267607499
ebirs267607499
HLIrs267607499
Exacrs267607499
Varsomers267607499
Maprs267607499
PheGenIrs267607499
hapmaprs267607499
1000 genomesrs267607499
hgdprs267607499
ensemblrs267607499
gopubmedrs267607499
geneviewrs267607499
scholarrs267607499
googlers267607499
pharmgkbrs267607499
gwascentralrs267607499
openSNPrs267607499
23andMers267607499
23andMe allrs267607499
SNP Nexus

SNPshotrs267607499
SNPdbers267607499
MSV3drs267607499
GWAS Ctlgrs267607499
Max Magnitude0
ClinVar
Risk rs267607499(G;G)
Alt rs267607499(G;G)
Reference rs267607499(A;A)
Significance Probable-Pathogenic
Disease not provided Myofibrillar myopathy 1 not specified
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy 1 not specified
Reversed 0
HGVS NC_000002.11:g.220283531A>G; NC_000002.11:g.220283531A>T
CLNSRC
CLNACC RCV000056799.1, RCV000150380.1, RCV000217696.1,