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rs727503220

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503220(G;T)
Make rs727503220(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47350565
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503220
ebirs727503220
HLIrs727503220
Exacrs727503220
Varsomers727503220
Maprs727503220
PheGenIrs727503220
hapmaprs727503220
1000 genomesrs727503220
hgdprs727503220
ensemblrs727503220
gopubmedrs727503220
geneviewrs727503220
scholarrs727503220
googlers727503220
pharmgkbrs727503220
gwascentralrs727503220
openSNPrs727503220
23andMers727503220
23andMe allrs727503220
SNP Nexus

SNPshotrs727503220
SNPdbers727503220
MSV3drs727503220
GWAS Ctlgrs727503220
Max Magnitude0
ClinVar
Risk rs727503220(A,T;A,T)
Alt rs727503220(A,T;A,T)
Reference rs727503220(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372116C>A
CLNSRC
CLNACC RCV000151171.2,