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rs730880748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880748(C;C)
Make rs730880748(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23424912
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880748
dbSNP (classic)rs730880748
ClinGenrs730880748
ebirs730880748
HLIrs730880748
Exacrs730880748
Gnomadrs730880748
Varsomers730880748
LitVarrs730880748
Maprs730880748
PheGenIrs730880748
Biobankrs730880748
1000 genomesrs730880748
hgdprs730880748
ensemblrs730880748
geneviewrs730880748
scholarrs730880748
googlers730880748
pharmgkbrs730880748
gwascentralrs730880748
openSNPrs730880748
23andMers730880748
SNPshotrs730880748
SNPdbers730880748
MSV3drs730880748
GWAS Ctlgrs730880748
Max Magnitude0
ClinVar
Risk rs730880748(C;C)
Alt rs730880748(C;C)
Reference Rs730880748(G;G)
Significance Pathogenic
Disease not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYH7
CLNDBN not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000014.8:g.23894121C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000158546.1, RCV000172050.2, RCV000253031.1,