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rs727504380

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504380(A;G)
Make rs727504380(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47331871
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504380
ebirs727504380
HLIrs727504380
Exacrs727504380
Varsomers727504380
Maprs727504380
PheGenIrs727504380
hapmaprs727504380
1000 genomesrs727504380
hgdprs727504380
ensemblrs727504380
gopubmedrs727504380
geneviewrs727504380
scholarrs727504380
googlers727504380
pharmgkbrs727504380
gwascentralrs727504380
openSNPrs727504380
23andMers727504380
23andMe allrs727504380
SNP Nexus

SNPshotrs727504380
SNPdbers727504380
MSV3drs727504380
GWAS Ctlgrs727504380
Max Magnitude0
ClinVar
Risk rs727504380(G;G)
Alt rs727504380(G;G)
Reference rs727504380(A;A)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353422T>C
CLNSRC
CLNACC RCV000154539.2,