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rs727504288

From SNPedia

Orientationminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs727504288(-;-)
Make rs727504288(-;AGA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47337550
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504288
ebirs727504288
HLIrs727504288
Exacrs727504288
Varsomers727504288
Maprs727504288
PheGenIrs727504288
hapmaprs727504288
1000 genomesrs727504288
hgdprs727504288
ensemblrs727504288
gopubmedrs727504288
geneviewrs727504288
scholarrs727504288
googlers727504288
pharmgkbrs727504288
gwascentralrs727504288
openSNPrs727504288
23andMers727504288
23andMe allrs727504288
SNP Nexus

SNPshotrs727504288
SNPdbers727504288
MSV3drs727504288
GWAS Ctlgrs727504288
Max Magnitude0
ClinVar
Risk rs727504288(;)
Alt rs727504288(;)
Reference rs727504288(AGA;AGA)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359101_47359103delTCT
CLNSRC
CLNACC RCV000154301.2, RCV000157327.2, RCV000168801.1, RCV000196806.2,