rs397516019

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TTAT)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs397516019(TTAT;TTAT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47332824

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397516019
dbSNP (classic)	rs397516019
ClinGen	rs397516019
ebi	rs397516019
HLI	rs397516019
Exac	rs397516019
Gnomad	rs397516019
Varsome	rs397516019
LitVar	rs397516019
Map	rs397516019
PheGenI	rs397516019
Biobank	rs397516019
1000 genomes	rs397516019
hgdp	rs397516019
ensembl	rs397516019
geneview	rs397516019
scholar	rs397516019
google	rs397516019
pharmgkb	rs397516019
gwascentral	rs397516019
openSNP	rs397516019
23andMe	rs397516019
SNPshot	rs397516019
SNPdbe	rs397516019
MSV3d	rs397516019
GWAS Ctlg	rs397516019

Max Magnitude

6.2

ClinVar
Risk	rs397516019(TTAT;TTAT)
Alt	rs397516019(TTAT;TTAT)
Reference	Rs397516019(-;-)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47354376_47354379dupATAA
CLNSRC	ClinVar
CLNACC	RCV000035589.2, RCV000158404.1,