rs397515907

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar

Make rs397515907(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47342697

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515907
dbSNP (classic)	rs397515907
ClinGen	rs397515907
ebi	rs397515907
HLI	rs397515907
Exac	rs397515907
Gnomad	rs397515907
Varsome	rs397515907
LitVar	rs397515907
Map	rs397515907
PheGenI	rs397515907
Biobank	rs397515907
1000 genomes	rs397515907
hgdp	rs397515907
ensembl	rs397515907
geneview	rs397515907
scholar	rs397515907
google	rs397515907
pharmgkb	rs397515907
gwascentral	rs397515907
openSNP	rs397515907
23andMe	rs397515907
SNPshot	rs397515907
SNPdbe	rs397515907
MSV3d	rs397515907
GWAS Ctlg	rs397515907

Max Magnitude

6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

ClinVar
Risk	rs397515907(A;A) rs397515907(T;T)
Alt	rs397515907(A;A) rs397515907(T;T)
Reference	Rs397515907(G;G)
Significance	Pathogenic
Disease	not specified Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYBPC3
CLNDBN	not specified Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000011.9:g.47364248C>A; NC_000011.9:g.47364248C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000151129.2, RCV000035407.4, RCV000158097.4, RCV000168303.2, RCV000211798.1, RCV000247256.1,