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rs727504280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar


Make rs727504280(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position23431471
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504280
dbSNP (classic)rs727504280
ClinGenrs727504280
ebirs727504280
HLIrs727504280
Exacrs727504280
Gnomadrs727504280
Varsomers727504280
LitVarrs727504280
Maprs727504280
PheGenIrs727504280
Biobankrs727504280
1000 genomesrs727504280
hgdprs727504280
ensemblrs727504280
geneviewrs727504280
scholarrs727504280
googlers727504280
pharmgkbrs727504280
gwascentralrs727504280
openSNPrs727504280
23andMers727504280
SNPshotrs727504280
SNPdbers727504280
MSV3drs727504280
GWAS Ctlgrs727504280
Max Magnitude6.2
ClinVar
Risk rs727504280(C;C)
Alt rs727504280(C;C)
Reference Rs727504280(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23900680A>G
CLNSRC
CLNACC RCV000154286.2,