rs397515948

Orientation

minus

Stabilized

minus

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

Make rs397515948(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47339358

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515948
dbSNP (classic)	rs397515948
ClinGen	rs397515948
ebi	rs397515948
HLI	rs397515948
Exac	rs397515948
Gnomad	rs397515948
Varsome	rs397515948
LitVar	rs397515948
Map	rs397515948
PheGenI	rs397515948
Biobank	rs397515948
1000 genomes	rs397515948
hgdp	rs397515948
ensembl	rs397515948
geneview	rs397515948
scholar	rs397515948
google	rs397515948
pharmgkb	rs397515948
gwascentral	rs397515948
openSNP	rs397515948
23andMe	rs397515948
SNPshot	rs397515948
SNPdbe	rs397515948
MSV3d	rs397515948
GWAS Ctlg	rs397515948

Max Magnitude

6.2

ClinVar
Risk	rs397515948(A;A)
Alt	rs397515948(A;A)
Reference	Rs397515948(-;-)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47360910dupT
CLNSRC	ClinVar
CLNACC	RCV000035465.2, RCV000204303.1,