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rs186964570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs186964570(A;A)
Make rs186964570(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23433656
GeneMYH7
is asnp
is mentioned by
dbSNPrs186964570
dbSNP (classic)rs186964570
ClinGenrs186964570
ebirs186964570
HLIrs186964570
Exacrs186964570
Gnomadrs186964570
Varsomers186964570
LitVarrs186964570
Maprs186964570
PheGenIrs186964570
Biobankrs186964570
1000 genomesrs186964570
hgdprs186964570
ensemblrs186964570
geneviewrs186964570
scholarrs186964570
googlers186964570
pharmgkbrs186964570
gwascentralrs186964570
openSNPrs186964570
23andMers186964570
SNPshotrs186964570
SNPdbers186964570
MSV3drs186964570
GWAS Ctlgrs186964570
Max Magnitude0
ClinVar
Risk rs186964570(A;A)
Alt rs186964570(A;A)
Reference Rs186964570(G;G)
Significance Other
Disease not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Myosin storage myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy Laing distal myopathy Scapuloperoneal myopathy
Variation info
Gene MYH7
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Myosin storage myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Laing distal myopathy Scapuloperoneal myopathy
Reversed 0
HGVS NC_000014.8:g.23902865G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000036003.3, RCV000148713.3, RCV000168831.3, RCV000264317.1, RCV000279740.1, RCV000319538.1, RCV000334846.1, RCV000374158.1, RCV000377499.1,