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rs145532615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs145532615(A;G)
Make rs145532615(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23423701
GeneMYH7
is asnp
is mentioned by
dbSNPrs145532615
dbSNP (classic)rs145532615
ClinGenrs145532615
ebirs145532615
HLIrs145532615
Exacrs145532615
Gnomadrs145532615
Varsomers145532615
LitVarrs145532615
Maprs145532615
PheGenIrs145532615
Biobankrs145532615
1000 genomesrs145532615
hgdprs145532615
ensemblrs145532615
geneviewrs145532615
scholarrs145532615
googlers145532615
pharmgkbrs145532615
gwascentralrs145532615
openSNPrs145532615
23andMers145532615
SNPshotrs145532615
SNPdbers145532615
MSV3drs145532615
GWAS Ctlgrs145532615
Max Magnitude0
ClinVar
Risk rs145532615(G;G)
Alt rs145532615(G;G)
Reference Rs145532615(A;A)
Significance Other
Disease not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Laing distal myopathy Dilated Cardiomyopathy Myosin storage myopathy
Variation info
Gene MYH7
CLNDBN not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Laing distal myopathy Dilated Cardiomyopathy, Dominant Myosin storage myopathy
Reversed 0
HGVS NC_000014.8:g.23892910A>G
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000035834.5, RCV000148698.2, RCV000168882.2, RCV000199809.4, RCV000247539.1, RCV000279750.1, RCV000292823.1, RCV000334844.1, RCV000352353.1, RCV000401402.1,