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rs376754645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376754645(C;T)
Make rs376754645(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23425345
GeneMYH7
is asnp
is mentioned by
dbSNPrs376754645
dbSNP (classic)rs376754645
ClinGenrs376754645
ebirs376754645
HLIrs376754645
Exacrs376754645
Gnomadrs376754645
Varsomers376754645
LitVarrs376754645
Maprs376754645
PheGenIrs376754645
Biobankrs376754645
1000 genomesrs376754645
hgdprs376754645
ensemblrs376754645
geneviewrs376754645
scholarrs376754645
googlers376754645
pharmgkbrs376754645
gwascentralrs376754645
openSNPrs376754645
23andMers376754645
SNPshotrs376754645
SNPdbers376754645
MSV3drs376754645
GWAS Ctlgrs376754645
Max Magnitude0
ClinVar
Risk rs376754645(T;T)
Alt rs376754645(T;T)
Reference Rs376754645(C;C)
Significance Other
Disease not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Laing distal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy
Variation info
Gene MYH7
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Laing distal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy
Reversed 0
HGVS NC_000014.8:g.23894554C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035789.3, RCV000148708.1, RCV000250929.1, RCV000299638.1, RCV000313839.1, RCV000348947.1, RCV000354671.1, RCV000392220.1, RCV000392228.1,