rs730880597

Orientation

minus

Stabilized

minus

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

Make rs730880597(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47332245

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs730880597
dbSNP (classic)	rs730880597
ClinGen	rs730880597
ebi	rs730880597
HLI	rs730880597
Exac	rs730880597
Gnomad	rs730880597
Varsome	rs730880597
LitVar	rs730880597
Map	rs730880597
PheGenI	rs730880597
Biobank	rs730880597
1000 genomes	rs730880597
hgdp	rs730880597
ensembl	rs730880597
geneview	rs730880597
scholar	rs730880597
google	rs730880597
pharmgkb	rs730880597
gwascentral	rs730880597
openSNP	rs730880597
23andMe	rs730880597
SNPshot	rs730880597
SNPdbe	rs730880597
MSV3d	rs730880597
GWAS Ctlg	rs730880597

Max Magnitude

6.2

ClinVar
Risk	rs730880597(A;A)
Alt	rs730880597(A;A)
Reference	Rs730880597(G;G)
Significance	Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47353796C>T
CLNSRC
CLNACC	RCV000158249.1, RCV000217718.1,