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rs727503203

From SNPedia

Orientationminus
Geno Mag Summary
(-;CC) 6 Familial hypertrophic cardiomyopathy (possible)
(CC;CC) 0 common in clinvar


Make rs727503203(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342929
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503203
ebirs727503203
HLIrs727503203
Exacrs727503203
Varsomers727503203
Maprs727503203
PheGenIrs727503203
hapmaprs727503203
1000 genomesrs727503203
hgdprs727503203
ensemblrs727503203
gopubmedrs727503203
geneviewrs727503203
scholarrs727503203
googlers727503203
pharmgkbrs727503203
gwascentralrs727503203
openSNPrs727503203
23andMers727503203
23andMe allrs727503203
SNP Nexus

SNPshotrs727503203
SNPdbers727503203
MSV3drs727503203
GWAS Ctlgrs727503203
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
ClinVar
Risk
Alt
Reference Rs727503203(CC;CC)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364480_47364481delGG
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000211797.1,