rs727503171

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs727503171(C;T)

Make rs727503171(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47332580

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs727503171
dbSNP (classic)	rs727503171
ClinGen	rs727503171
ebi	rs727503171
HLI	rs727503171
Exac	rs727503171
Gnomad	rs727503171
Varsome	rs727503171
LitVar	rs727503171
Map	rs727503171
PheGenI	rs727503171
Biobank	rs727503171
1000 genomes	rs727503171
hgdp	rs727503171
ensembl	rs727503171
geneview	rs727503171
scholar	rs727503171
google	rs727503171
pharmgkb	rs727503171
gwascentral	rs727503171
openSNP	rs727503171
23andMe	rs727503171
SNPshot	rs727503171
SNPdbe	rs727503171
MSV3d	rs727503171
GWAS Ctlg	rs727503171

Max Magnitude

0

ClinVar
Risk	rs727503171(T;T)
Alt	rs727503171(T;T)
Reference	Rs727503171(C;C)
Significance	Probable-Pathogenic
Disease	not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47354131G>A
CLNSRC
CLNACC	RCV000151066.2, RCV000208211.1, RCV000263553.1, RCV000320904.1, RCV000377792.1,