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rs397516698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516698(A;A)
Make rs397516698(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219420347
GeneDES
is asnp
is mentioned by
dbSNPrs397516698
ebirs397516698
HLIrs397516698
Exacrs397516698
Varsomers397516698
Maprs397516698
PheGenIrs397516698
hapmaprs397516698
1000 genomesrs397516698
hgdprs397516698
ensemblrs397516698
gopubmedrs397516698
geneviewrs397516698
scholarrs397516698
googlers397516698
pharmgkbrs397516698
gwascentralrs397516698
openSNPrs397516698
23andMers397516698
23andMe allrs397516698
SNP Nexus

SNPshotrs397516698
SNPdbers397516698
MSV3drs397516698
GWAS Ctlgrs397516698
Max Magnitude0
ClinVar
Risk rs397516698(A,C;A,C)
Alt rs397516698(A,C;A,C)
Reference rs397516698(G;G)
Significance Probable-Pathogenic
Disease Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220285069G>A; NC_000002.11:g.220285069G>C
CLNSRC ClinVar
CLNACC RCV000037249.2, RCV000150381.1,