rs397516000

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397516000(A;A)

Make rs397516000(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47333682

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397516000
dbSNP (classic)	rs397516000
ClinGen	rs397516000
ebi	rs397516000
HLI	rs397516000
Exac	rs397516000
Gnomad	rs397516000
Varsome	rs397516000
LitVar	rs397516000
Map	rs397516000
PheGenI	rs397516000
Biobank	rs397516000
1000 genomes	rs397516000
hgdp	rs397516000
ensembl	rs397516000
geneview	rs397516000
scholar	rs397516000
google	rs397516000
pharmgkb	rs397516000
gwascentral	rs397516000
openSNP	rs397516000
23andMe	rs397516000
SNPshot	rs397516000
SNPdbe	rs397516000
MSV3d	rs397516000
GWAS Ctlg	rs397516000

Max Magnitude

0

ClinVar
Risk	rs397516000(A;A) rs397516000(C;C)
Alt	rs397516000(A;A) rs397516000(C;C)
Reference	Rs397516000(G;G)
Significance	Probable-Pathogenic
Disease	not specified Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Variation	info
Gene	MYBPC3
CLNDBN	not specified Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Reversed	1
HGVS	NC_000011.9:g.47355233C>G; NC_000011.9:g.47355233C>T
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000035555.2, RCV000167911.1, RCV000168808.2, RCV000257925.2, RCV000035554.2, RCV000201897.1,