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rs727503172

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503172(-;-)
Make rs727503172(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47333236
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503172
ebirs727503172
HLIrs727503172
Exacrs727503172
Varsomers727503172
Maprs727503172
PheGenIrs727503172
hapmaprs727503172
1000 genomesrs727503172
hgdprs727503172
ensemblrs727503172
gopubmedrs727503172
geneviewrs727503172
scholarrs727503172
googlers727503172
pharmgkbrs727503172
gwascentralrs727503172
openSNPrs727503172
23andMers727503172
23andMe allrs727503172
SNP Nexus

SNPshotrs727503172
SNPdbers727503172
MSV3drs727503172
GWAS Ctlgrs727503172
Max Magnitude0
ClinVar
Risk rs727503172(;)
Alt rs727503172(;)
Reference rs727503172(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Cardiomyopathy Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Cardiomyopathy Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354787delC
CLNSRC
CLNACC RCV000151070.3, RCV000158396.1, RCV000211820.1,