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rs727504248

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504248(-;-)
Make rs727504248(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342153
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504248
ebirs727504248
HLIrs727504248
Exacrs727504248
Varsomers727504248
Maprs727504248
PheGenIrs727504248
hapmaprs727504248
1000 genomesrs727504248
hgdprs727504248
ensemblrs727504248
gopubmedrs727504248
geneviewrs727504248
scholarrs727504248
googlers727504248
pharmgkbrs727504248
gwascentralrs727504248
openSNPrs727504248
23andMers727504248
23andMe allrs727504248
SNP Nexus

SNPshotrs727504248
SNPdbers727504248
MSV3drs727504248
GWAS Ctlgrs727504248
Max Magnitude0
ClinVar
Risk rs727504248(;)
Alt rs727504248(;)
Reference rs727504248(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47363704delT
CLNSRC
CLNACC RCV000154220.2,