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rs727503175

From SNPedia

Orientationminus
Geno Mag Summary
(TGTTCATCCGGGC;TGTTCATCCGGGC) 0 common in clinvar
Make rs727503175(-;-)
Make rs727503175(-;TGTTCATCCGGGC)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47333646
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503175
ebirs727503175
HLIrs727503175
Exacrs727503175
Varsomers727503175
Maprs727503175
PheGenIrs727503175
hapmaprs727503175
1000 genomesrs727503175
hgdprs727503175
ensemblrs727503175
gopubmedrs727503175
geneviewrs727503175
scholarrs727503175
googlers727503175
pharmgkbrs727503175
gwascentralrs727503175
openSNPrs727503175
23andMers727503175
23andMe allrs727503175
SNP Nexus

SNPshotrs727503175
SNPdbers727503175
MSV3drs727503175
GWAS Ctlgrs727503175
Max Magnitude0
ClinVar
Risk rs727503175(;)
Alt rs727503175(;)
Reference rs727503175(TGTTCATCCGGGC;TGTTCATCCGGGC)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47355197_47355209delGCCCGGATGAACA
CLNSRC
CLNACC RCV000151076.4, RCV000211814.1,