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rs397516254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516254(A;A)
Make rs397516254(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23413809
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516254
ebirs397516254
HLIrs397516254
Exacrs397516254
Varsomers397516254
Maprs397516254
PheGenIrs397516254
hapmaprs397516254
1000 genomesrs397516254
hgdprs397516254
ensemblrs397516254
gopubmedrs397516254
geneviewrs397516254
scholarrs397516254
googlers397516254
pharmgkbrs397516254
gwascentralrs397516254
openSNPrs397516254
23andMers397516254
23andMe allrs397516254
SNP Nexus

SNPshotrs397516254
SNPdbers397516254
MSV3drs397516254
GWAS Ctlgrs397516254
Max Magnitude0
ClinVar
Risk rs397516254(A;A)
Alt rs397516254(A;A)
Reference rs397516254(G;G)
Significance Pathogenic
Disease Primary dilated cardiomyopathy Dilated cardiomyopathy 1S Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Primary dilated cardiomyopathy Dilated cardiomyopathy 1S Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23883018C>T
CLNSRC ClinVar
CLNACC RCV000035983.3, RCV000132760.1, RCV000192205.1,