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rs869025462

From SNPedia

Orientationminus
Geno Mag Summary
(ATCAGC;ATCAGC) 0 common in clinvar
Make rs869025462(ATCAGC;TGATGAG)
Make rs869025462(TGATGAG;TGATGAG)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47351381
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs869025462
ebirs869025462
HLIrs869025462
Exacrs869025462
Varsomers869025462
Maprs869025462
PheGenIrs869025462
hapmaprs869025462
1000 genomesrs869025462
hgdprs869025462
ensemblrs869025462
gopubmedrs869025462
geneviewrs869025462
scholarrs869025462
googlers869025462
pharmgkbrs869025462
gwascentralrs869025462
openSNPrs869025462
23andMers869025462
23andMe allrs869025462
SNP Nexus

SNPshotrs869025462
SNPdbers869025462
MSV3drs869025462
GWAS Ctlgrs869025462
Max Magnitude0
ClinVar
Risk rs869025462(TGATGAG;TGATGAG)
Alt rs869025462(TGATGAG;TGATGAG)
Reference rs869025462(ATCAGC;ATCAGC)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372932_47372937delGCTGATinsCTCATCA
CLNSRC
CLNACC RCV000208518.1,