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rs190228518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;G) 6 Familial Hypertrophic Cardiomyopathy (possible)


Make rs190228518(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47343070
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs190228518
dbSNP (classic)rs190228518
ClinGenrs190228518
ebirs190228518
HLIrs190228518
Exacrs190228518
Gnomadrs190228518
Varsomers190228518
LitVarrs190228518
Maprs190228518
PheGenIrs190228518
Biobankrs190228518
1000 genomesrs190228518
hgdprs190228518
ensemblrs190228518
geneviewrs190228518
scholarrs190228518
googlers190228518
pharmgkbrs190228518
gwascentralrs190228518
openSNPrs190228518
23andMers190228518
SNPshotrs190228518
SNPdbers190228518
MSV3drs190228518
GWAS Ctlgrs190228518
Max Magnitude6.2

[PMID 24704860OA-icon.png] Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.


ClinVar
Risk rs190228518(A;A) rs190228518(T;T)
Alt rs190228518(A;A) rs190228518(T;T)
Reference Rs190228518(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 1
Reversed 0
HGVS NC_000011.9:g.47364621G>T
CLNSRC
CLNACC RCV000201869.1,