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rs749310275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749310275(C;C)
Make rs749310275(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47342930
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs749310275
ClinGenrs749310275
ebirs749310275
HLIrs749310275
Exacrs749310275
Varsomers749310275
Maprs749310275
PheGenIrs749310275
hapmaprs749310275
1000 genomesrs749310275
hgdprs749310275
ensemblrs749310275
gopubmedrs749310275
geneviewrs749310275
scholarrs749310275
googlers749310275
pharmgkbrs749310275
gwascentralrs749310275
openSNPrs749310275
23andMers749310275
23andMe allrs749310275
SNP Nexus

SNPshotrs749310275
SNPdbers749310275
MSV3drs749310275
GWAS Ctlgrs749310275
Max Magnitude0
ClinVar
Risk rs749310275(A;A) rs749310275(C;C)
Alt rs749310275(A;A) rs749310275(C;C)
Reference Rs749310275(G;G)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4
Reversed 0
HGVS NC_000011.9:g.47364481G>A
CLNSRC
CLNACC RCV000201491.1,