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rs397516269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6 Familial hypertrophic cardiomyopathy (possible)
(T;T) 0 common in clinvar


Make rs397516269(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23431426
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516269
dbSNP (old)rs397516269
ClinGenrs397516269
ebirs397516269
HLIrs397516269
Exacrs397516269
Varsomers397516269
Maprs397516269
PheGenIrs397516269
Biobankrs397516269
1000 genomesrs397516269
hgdprs397516269
ensemblrs397516269
gopubmedrs397516269
geneviewrs397516269
scholarrs397516269
googlers397516269
pharmgkbrs397516269
gwascentralrs397516269
openSNPrs397516269
23andMers397516269
23andMe allrs397516269
SNP Nexus

SNPshotrs397516269
SNPdbers397516269
MSV3drs397516269
GWAS Ctlgrs397516269
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 rs397516269(C;C)
Alt rs397516269(C;C)
Reference Rs397516269(T;T)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23900635A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000036004.2, RCV000158766.1, RCV000201434.1,