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rs45511396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs45511396(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position23433684
GeneMYH7
is asnp
is mentioned by
dbSNPrs45511396
ClinGenrs45511396
ebirs45511396
HLIrs45511396
Exacrs45511396
Varsomers45511396
Maprs45511396
PheGenIrs45511396
hapmaprs45511396
1000 genomesrs45511396
hgdprs45511396
ensemblrs45511396
gopubmedrs45511396
geneviewrs45511396
scholarrs45511396
googlers45511396
pharmgkbrs45511396
gwascentralrs45511396
openSNPrs45511396
23andMers45511396
23andMe allrs45511396
SNP Nexus

SNPshotrs45511396
SNPdbers45511396
MSV3drs45511396
GWAS Ctlgrs45511396
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
ClinVar
Risk rs45511396(T;T)
Alt rs45511396(T;T)
Reference Rs45511396(C;C)
Significance Probable-Pathogenic
Disease not specified
Variation info
Gene MYH7
CLNDBN not specified
Reversed 1
HGVS NC_000014.8:g.23902893G>A
CLNSRC ClinVar
CLNACC RCV000035944.4,