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rs2856655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2856655(A;A)
Make rs2856655(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337534
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs2856655
dbSNP (classic)rs2856655
ClinGenrs2856655
ebirs2856655
HLIrs2856655
Exacrs2856655
Gnomadrs2856655
Varsomers2856655
LitVarrs2856655
Maprs2856655
PheGenIrs2856655
Biobankrs2856655
1000 genomesrs2856655
hgdprs2856655
ensemblrs2856655
geneviewrs2856655
scholarrs2856655
googlers2856655
pharmgkbrs2856655
gwascentralrs2856655
openSNPrs2856655
23andMers2856655
SNPshotrs2856655
SNPdbers2856655
MSV3drs2856655
GWAS Ctlgrs2856655
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM600958
Desc
Variant0015
Relatedalso


ClinVar
Risk rs2856655(A;A) rs2856655(C;C)
Alt rs2856655(A;A) rs2856655(C;C)
Reference Rs2856655(G;G)
Significance Pathogenic
Disease not provided Familial hypertrophic cardiomyopathy 4 not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Familial hypertrophic cardiomyopathy 4 not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359085C>G; NC_000011.9:g.47359085C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000158160.2, RCV000009148.6, RCV000158159.3, RCV000168802.2, RCV000211727.1,