rs727504423

Orientation

minus

Stabilized

minus

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

Make rs727504423(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47333963

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs727504423
dbSNP (classic)	rs727504423
ClinGen	rs727504423
ebi	rs727504423
HLI	rs727504423
Exac	rs727504423
Gnomad	rs727504423
Varsome	rs727504423
LitVar	rs727504423
Map	rs727504423
PheGenI	rs727504423
Biobank	rs727504423
1000 genomes	rs727504423
hgdp	rs727504423
ensembl	rs727504423
geneview	rs727504423
scholar	rs727504423
google	rs727504423
pharmgkb	rs727504423
gwascentral	rs727504423
openSNP	rs727504423
23andMe	rs727504423
SNPshot	rs727504423
SNPdbe	rs727504423
MSV3d	rs727504423
GWAS Ctlg	rs727504423

Max Magnitude

6.2

ClinVar
Risk	rs727504423(T;T)
Alt	rs727504423(T;T)
Reference	Rs727504423(A;A)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000011.9:g.47355514T>A
CLNSRC
CLNACC	RCV000154619.2, RCV000433026.1,