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rs190228518

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs190228518(A;A)
Make rs190228518(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47343070
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs190228518
ebirs190228518
HLIrs190228518
Exacrs190228518
Varsomers190228518
Maprs190228518
PheGenIrs190228518
hapmaprs190228518
1000 genomesrs190228518
hgdprs190228518
ensemblrs190228518
gopubmedrs190228518
geneviewrs190228518
scholarrs190228518
googlers190228518
pharmgkbrs190228518
gwascentralrs190228518
openSNPrs190228518
23andMers190228518
23andMe allrs190228518
SNP Nexus

SNPshotrs190228518
SNPdbers190228518
MSV3drs190228518
GWAS Ctlgrs190228518
Max Magnitude0
ClinVar
Risk rs190228518(A;A)
Alt rs190228518(A;A)
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,