rs111683277

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6	Familial hypertrophic cardiomyopathy (possible)
(C;T)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs111683277(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47333556

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs111683277
dbSNP (classic)	rs111683277
ClinGen	rs111683277
ebi	rs111683277
HLI	rs111683277
Exac	rs111683277
Gnomad	rs111683277
Varsome	rs111683277
LitVar	rs111683277
Map	rs111683277
PheGenI	rs111683277
Biobank	rs111683277
1000 genomes	rs111683277
hgdp	rs111683277
ensembl	rs111683277
geneview	rs111683277
scholar	rs111683277
google	rs111683277
pharmgkb	rs111683277
gwascentral	rs111683277
openSNP	rs111683277
23andMe	rs111683277
SNPshot	rs111683277
SNPdbe	rs111683277
MSV3d	rs111683277
GWAS Ctlg	rs111683277

Max Magnitude

6.2

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

[PMID 25132132 ]Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

[PMID 20215591 ] Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

ClinVar
Risk	rs111683277(G;G) rs111683277(T;T)
Alt	rs111683277(G;G) rs111683277(T;T)
Reference	Rs111683277(C;C)
Significance	Other
Disease	not provided Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000011.9:g.47355107C>T
CLNSRC
CLNACC	RCV000158206.3, RCV000211816.1,