rs727504299

Orientation

minus

Stabilized

minus

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

Make rs727504299(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23425790

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs727504299
dbSNP (classic)	rs727504299
ClinGen	rs727504299
ebi	rs727504299
HLI	rs727504299
Exac	rs727504299
Gnomad	rs727504299
Varsome	rs727504299
LitVar	rs727504299
Map	rs727504299
PheGenI	rs727504299
Biobank	rs727504299
1000 genomes	rs727504299
hgdp	rs727504299
ensembl	rs727504299
geneview	rs727504299
scholar	rs727504299
google	rs727504299
pharmgkb	rs727504299
gwascentral	rs727504299
openSNP	rs727504299
23andMe	rs727504299
SNPshot	rs727504299
SNPdbe	rs727504299
MSV3d	rs727504299
GWAS Ctlg	rs727504299

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	rs727504299(A;A) rs727504299(G;G) rs727504299(T;T)
Alt	rs727504299(A;A) rs727504299(G;G) rs727504299(T;T)
Reference	Rs727504299(C;C)
Significance	Pathogenic
Disease	not provided Familial hypertrophic cardiomyopathy 1 not specified
Variation	info
Gene	MYH7
CLNDBN	not provided Familial hypertrophic cardiomyopathy 1 not specified
Reversed	1
HGVS	NC_000014.8:g.23894999G>A; NC_000014.8:g.23894999G>C; NC_000014.8:g.23894999G>T
CLNSRC
CLNACC	RCV000158517.1, RCV000201447.1, RCV000154322.2, RCV000426523.1,