rs190228518

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6.2	Familial Hypertrophic Cardiomyopathy
(T;G)	6	Familial Hypertrophic Cardiomyopathy (possible)

Make rs190228518(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

47343070

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs190228518
dbSNP (classic)	rs190228518
ClinGen	rs190228518
ebi	rs190228518
HLI	rs190228518
Exac	rs190228518
Gnomad	rs190228518
Varsome	rs190228518
LitVar	rs190228518
Map	rs190228518
PheGenI	rs190228518
Biobank	rs190228518
1000 genomes	rs190228518
hgdp	rs190228518
ensembl	rs190228518
geneview	rs190228518
scholar	rs190228518
google	rs190228518
pharmgkb	rs190228518
gwascentral	rs190228518
openSNP	rs190228518
23andMe	rs190228518
23andMe all	rs190228518
SNPshot	rs190228518
SNPdbe	rs190228518
MSV3d	rs190228518
GWAS Ctlg	rs190228518

Max Magnitude

6.2

[PMID 24704860] Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

ClinVar
Risk	rs190228518(A;A) rs190228518(T;T)
Alt	rs190228518(A;A) rs190228518(T;T)
Reference	Rs190228518(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 1
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 1
Reversed	0
HGVS	NC_000011.9:g.47364621G>T
CLNSRC
CLNACC	RCV000201869.1,