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rs267606911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606911(G;T)
Make rs267606911(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23428587
GeneMYH7
is asnp
is mentioned by
dbSNPrs267606911
dbSNP (classic)rs267606911
ClinGenrs267606911
ebirs267606911
HLIrs267606911
Exacrs267606911
Gnomadrs267606911
Varsomers267606911
LitVarrs267606911
Maprs267606911
PheGenIrs267606911
Biobankrs267606911
1000 genomesrs267606911
hgdprs267606911
ensemblrs267606911
geneviewrs267606911
scholarrs267606911
googlers267606911
pharmgkbrs267606911
gwascentralrs267606911
openSNPrs267606911
23andMers267606911
SNPshotrs267606911
SNPdbers267606911
MSV3drs267606911
GWAS Ctlgrs267606911
Max Magnitude0
ClinVar
Risk rs267606911(T;T)
Alt rs267606911(T;T)
Reference Rs267606911(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 not specified Hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 not specified Hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000014.8:g.23897796C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015184.26, RCV000035727.3, RCV000204929.2, RCV000223873.1, RCV000250089.1,