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rs375347534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375347534(C;T)
Make rs375347534(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342750
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs375347534
dbSNP (old)rs375347534
ClinGenrs375347534
ebirs375347534
HLIrs375347534
Exacrs375347534
Gnomadrs375347534
Varsomers375347534
Maprs375347534
PheGenIrs375347534
Biobankrs375347534
1000 genomesrs375347534
hgdprs375347534
ensemblrs375347534
gopubmedrs375347534
geneviewrs375347534
scholarrs375347534
googlers375347534
pharmgkbrs375347534
gwascentralrs375347534
openSNPrs375347534
23andMers375347534
23andMe allrs375347534
SNP Nexus

SNPshotrs375347534
SNPdbers375347534
MSV3drs375347534
GWAS Ctlgrs375347534
Max Magnitude0
ClinVar
Risk rs375347534(A;A) rs375347534(T;T)
Alt rs375347534(A;A) rs375347534(T;T)
Reference Rs375347534(C;C)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47364301C>T
CLNSRC
CLNACC RCV000035399.2, RCV000157325.2, RCV000158089.1, RCV000230101.2,