rs730880143

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs730880143(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47343625

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs730880143
dbSNP (classic)	rs730880143
ClinGen	rs730880143
ebi	rs730880143
HLI	rs730880143
Exac	rs730880143
Gnomad	rs730880143
Varsome	rs730880143
LitVar	rs730880143
Map	rs730880143
PheGenI	rs730880143
Biobank	rs730880143
1000 genomes	rs730880143
hgdp	rs730880143
ensembl	rs730880143
geneview	rs730880143
scholar	rs730880143
google	rs730880143
pharmgkb	rs730880143
gwascentral	rs730880143
openSNP	rs730880143
23andMe	rs730880143
SNPshot	rs730880143
SNPdbe	rs730880143
MSV3d	rs730880143
GWAS Ctlg	rs730880143

Max Magnitude

6.2

ClinVar
Risk	rs730880143(A;A)
Alt	rs730880143(A;A)
Reference	Rs730880143(G;G)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47365176C>T
CLNSRC
CLNACC	RCV000157324.1,