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rs375675796

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375675796(C;T)
Make rs375675796(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47337564
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs375675796
ebirs375675796
HLIrs375675796
Exacrs375675796
Varsomers375675796
Maprs375675796
PheGenIrs375675796
hapmaprs375675796
1000 genomesrs375675796
hgdprs375675796
ensemblrs375675796
gopubmedrs375675796
geneviewrs375675796
scholarrs375675796
googlers375675796
pharmgkbrs375675796
gwascentralrs375675796
openSNPrs375675796
23andMers375675796
23andMe allrs375675796
SNP Nexus

SNPshotrs375675796
SNPdbers375675796
MSV3drs375675796
GWAS Ctlgrs375675796
Max Magnitude0
ClinVar
Risk rs375675796(A,T;A,T)
Alt rs375675796(A,T;A,T)
Reference rs375675796(C;C)
Significance Pathogenic
Disease not provided not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN not provided not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Reversed 0
HGVS NC_000011.9:g.47359115C>A; NC_000011.9:g.47359115C>T
CLNSRC
CLNACC RCV000158444.2, RCV000035488.5, RCV000148677.1, RCV000201483.1,