Have questions? Visit https://www.reddit.com/r/SNPedia

rs727504236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs727504236(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23428642
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504236
dbSNP (old)rs727504236
ClinGenrs727504236
ebirs727504236
HLIrs727504236
Exacrs727504236
Gnomadrs727504236
Varsomers727504236
Maprs727504236
PheGenIrs727504236
Biobankrs727504236
1000 genomesrs727504236
hgdprs727504236
ensemblrs727504236
gopubmedrs727504236
geneviewrs727504236
scholarrs727504236
googlers727504236
pharmgkbrs727504236
gwascentralrs727504236
openSNPrs727504236
23andMers727504236
23andMe allrs727504236
SNP Nexus

SNPshotrs727504236
SNPdbers727504236
MSV3drs727504236
GWAS Ctlgrs727504236
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 rs727504236(G;G)
Alt rs727504236(G;G)
Reference Rs727504236(A;A)
Significance Probable-Pathogenic
Disease not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23897851T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000154202.2, RCV000204606.1,