rs397515912

Orientation

minus

Stabilized

minus

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

Make rs397515912(C;C)

Make rs397515912(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47342611

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515912
dbSNP (classic)	rs397515912
ClinGen	rs397515912
ebi	rs397515912
HLI	rs397515912
Exac	rs397515912
Gnomad	rs397515912
Varsome	rs397515912
LitVar	rs397515912
Map	rs397515912
PheGenI	rs397515912
Biobank	rs397515912
1000 genomes	rs397515912
hgdp	rs397515912
ensembl	rs397515912
geneview	rs397515912
scholar	rs397515912
google	rs397515912
pharmgkb	rs397515912
gwascentral	rs397515912
openSNP	rs397515912
23andMe	rs397515912
SNPshot	rs397515912
SNPdbe	rs397515912
MSV3d	rs397515912
GWAS Ctlg	rs397515912

Max Magnitude

0

ClinVar
Risk	rs397515912(A;A) rs397515912(C;C) rs397515912(T;T)
Alt	rs397515912(A;A) rs397515912(C;C) rs397515912(T;T)
Reference	Rs397515912(G;G)
Significance	Probable-Pathogenic
Disease	not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYBPC3
CLNDBN	not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000011.9:g.47364162C>G; NC_000011.9:g.47364162C>T
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000035416.3, RCV000168782.2, RCV000151124.3, RCV000168781.2, RCV000249319.1,