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rs397516253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516253(C;C)
Make rs397516253(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23413823
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516253
ebirs397516253
HLIrs397516253
Exacrs397516253
Varsomers397516253
Maprs397516253
PheGenIrs397516253
hapmaprs397516253
1000 genomesrs397516253
hgdprs397516253
ensemblrs397516253
gopubmedrs397516253
geneviewrs397516253
scholarrs397516253
googlers397516253
pharmgkbrs397516253
gwascentralrs397516253
openSNPrs397516253
23andMers397516253
23andMe allrs397516253
SNP Nexus

SNPshotrs397516253
SNPdbers397516253
MSV3drs397516253
GWAS Ctlgrs397516253
Max Magnitude0
ClinVar
Risk rs397516253(A,C;A,C)
Alt rs397516253(A,C;A,C)
Reference rs397516253(G;G)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy Cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN Primary dilated cardiomyopathy Cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23883032C>G; NC_000014.8:g.23883032C>T
CLNSRC ClinVar
CLNACC RCV000035980.3, RCV000158715.1,