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rs371488302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs371488302(C;T)
Make rs371488302(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47337792
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs371488302
dbSNP (classic)rs371488302
ClinGenrs371488302
ebirs371488302
HLIrs371488302
Exacrs371488302
Gnomadrs371488302
Varsomers371488302
LitVarrs371488302
Maprs371488302
PheGenIrs371488302
Biobankrs371488302
1000 genomesrs371488302
hgdprs371488302
ensemblrs371488302
geneviewrs371488302
scholarrs371488302
googlers371488302
pharmgkbrs371488302
gwascentralrs371488302
openSNPrs371488302
23andMers371488302
SNPshotrs371488302
SNPdbers371488302
MSV3drs371488302
GWAS Ctlgrs371488302
Max Magnitude0
ClinVar
Risk rs371488302(T;T)
Alt rs371488302(T;T)
Reference Rs371488302(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Primary dilated cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Primary dilated cardiomyopathy not provided
Reversed 0
HGVS NC_000011.9:g.47359343C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000148679.1, RCV000157311.1, RCV000158151.2,