Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800565(A;A)
Make rs1800565(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47339757
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs1800565
dbSNP (classic)rs1800565
ClinGenrs1800565
ebirs1800565
HLIrs1800565
Exacrs1800565
Gnomadrs1800565
Varsomers1800565
LitVarrs1800565
Maprs1800565
PheGenIrs1800565
Biobankrs1800565
1000 genomesrs1800565
hgdprs1800565
ensemblrs1800565
geneviewrs1800565
scholarrs1800565
googlers1800565
pharmgkbrs1800565
gwascentralrs1800565
openSNPrs1800565
23andMers1800565
SNPshotrs1800565
SNPdbers1800565
MSV3drs1800565
GWAS Ctlgrs1800565
Max Magnitude0
ClinVar
Risk rs1800565(A;A)
Alt rs1800565(A;A)
Reference Rs1800565(G;G)
Significance Pathogenic
Disease not specified Cardiovascular phenotype Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Cardiovascular phenotype Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47361308C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035456.2, RCV000251228.1, RCV000465385.1,