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rs587782957

From SNPedia

Orientationminus
Geno Mag Summary
(GGTTC;GGTTC) 0 common in clinvar
Make rs587782957(-;-)
Make rs587782957(-;GGTTC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342693
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs587782957
ebirs587782957
HLIrs587782957
Exacrs587782957
Varsomers587782957
Maprs587782957
PheGenIrs587782957
hapmaprs587782957
1000 genomesrs587782957
hgdprs587782957
ensemblrs587782957
gopubmedrs587782957
geneviewrs587782957
scholarrs587782957
googlers587782957
pharmgkbrs587782957
gwascentralrs587782957
openSNPrs587782957
23andMers587782957
23andMe allrs587782957
SNP Nexus

SNPshotrs587782957
SNPdbers587782957
MSV3drs587782957
GWAS Ctlgrs587782957
Max Magnitude0
ClinVar
Risk rs587782957(;)
Alt rs587782957(;)
Reference rs587782957(GGTTC;GGTTC)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364244_47364248delGAACC
CLNSRC
CLNACC RCV000143911.1,