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

rs727504289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504289(A;A)
Make rs727504289(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332932
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504289
dbSNP (classic)rs727504289
ClinGenrs727504289
ebirs727504289
HLIrs727504289
Exacrs727504289
Gnomadrs727504289
Varsomers727504289
LitVarrs727504289
Maprs727504289
PheGenIrs727504289
Biobankrs727504289
1000 genomesrs727504289
hgdprs727504289
ensemblrs727504289
geneviewrs727504289
scholarrs727504289
googlers727504289
pharmgkbrs727504289
gwascentralrs727504289
openSNPrs727504289
23andMers727504289
SNPshotrs727504289
SNPdbers727504289
MSV3drs727504289
GWAS Ctlgrs727504289
Max Magnitude0
ClinVar
Risk rs727504289(A;A) rs727504289(T;T)
Alt rs727504289(A;A) rs727504289(T;T)
Reference Rs727504289(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47354483G>T
CLNSRC
CLNACC RCV000154302.1, RCV000413211.1,