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rs397516000

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516000(A;A)
Make rs397516000(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47333682
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516000
ebirs397516000
HLIrs397516000
Exacrs397516000
Varsomers397516000
Maprs397516000
PheGenIrs397516000
hapmaprs397516000
1000 genomesrs397516000
hgdprs397516000
ensemblrs397516000
gopubmedrs397516000
geneviewrs397516000
scholarrs397516000
googlers397516000
pharmgkbrs397516000
gwascentralrs397516000
openSNPrs397516000
23andMers397516000
23andMe allrs397516000
SNP Nexus

SNPshotrs397516000
SNPdbers397516000
MSV3drs397516000
GWAS Ctlgrs397516000
Max Magnitude0
ClinVar
Risk rs397516000(A,C;A,C)
Alt rs397516000(A,C;A,C)
Reference rs397516000(G;G)
Significance Probable-Pathogenic
Disease not specified Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 not provided Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYBPC3
CLNDBN not specified Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 not provided Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000011.9:g.47355233C>G; NC_000011.9:g.47355233C>T
CLNSRC
CLNACC RCV000035555.2, RCV000167911.1, RCV000168808.1, RCV000225722.1, RCV000035554.2, RCV000201897.1,