rs786204329

Orientation

minus

Stabilized

minus

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

Make rs786204329(ATCACCGATGCCCAGCCTGCCTTCAC;ATCACCGATGCCCAGCCTGCCTTCAC)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

47348494

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs786204329
dbSNP (classic)	rs786204329
ClinGen	rs786204329
ebi	rs786204329
HLI	rs786204329
Exac	rs786204329
Gnomad	rs786204329
Varsome	rs786204329
LitVar	rs786204329
Map	rs786204329
PheGenI	rs786204329
Biobank	rs786204329
1000 genomes	rs786204329
hgdp	rs786204329
ensembl	rs786204329
geneview	rs786204329
scholar	rs786204329
google	rs786204329
pharmgkb	rs786204329
gwascentral	rs786204329
openSNP	rs786204329
23andMe	rs786204329
SNPshot	rs786204329
SNPdbe	rs786204329
MSV3d	rs786204329
GWAS Ctlg	rs786204329

Max Magnitude

6.2

ClinVar
Risk	rs786204329(ATCACCGATGCCCAGCCTGCCTTCAC;ATCACCGATGCCCAGCCTGCCTTCAC)
Alt	rs786204329(ATCACCGATGCCCAGCCTGCCTTCAC;ATCACCGATGCCCAGCCTGCCTTCAC)
Reference	Rs786204329(-;-)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47370046_47370071dup26
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000168752.3, RCV000257926.2,