rs397516001

Orientation

minus

Stabilized

minus

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

Make rs397516001(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47333678

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397516001
dbSNP (classic)	rs397516001
ClinGen	rs397516001
ebi	rs397516001
HLI	rs397516001
Exac	rs397516001
Gnomad	rs397516001
Varsome	rs397516001
LitVar	rs397516001
Map	rs397516001
PheGenI	rs397516001
Biobank	rs397516001
1000 genomes	rs397516001
hgdp	rs397516001
ensembl	rs397516001
geneview	rs397516001
scholar	rs397516001
google	rs397516001
pharmgkb	rs397516001
gwascentral	rs397516001
openSNP	rs397516001
23andMe	rs397516001
SNPshot	rs397516001
SNPdbe	rs397516001
MSV3d	rs397516001
GWAS Ctlg	rs397516001

Max Magnitude

6.2

ClinVar
Risk	rs397516001(A;A)
Alt	rs397516001(A;A)
Reference	Rs397516001(-;-)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47355230dupT
CLNSRC	ClinVar
CLNACC	RCV000035556.2,