rs727503261

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;T)	6.2	Familial Hypertrophic Cardiomyopathy
(T;T)	0	common in clinvar

Make rs727503261(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23425774

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs727503261
dbSNP (classic)	rs727503261
ClinGen	rs727503261
ebi	rs727503261
HLI	rs727503261
Exac	rs727503261
Gnomad	rs727503261
Varsome	rs727503261
LitVar	rs727503261
Map	rs727503261
PheGenI	rs727503261
Biobank	rs727503261
1000 genomes	rs727503261
hgdp	rs727503261
ensembl	rs727503261
geneview	rs727503261
scholar	rs727503261
google	rs727503261
pharmgkb	rs727503261
gwascentral	rs727503261
openSNP	rs727503261
23andMe	rs727503261
SNPshot	rs727503261
SNPdbe	rs727503261
MSV3d	rs727503261
GWAS Ctlg	rs727503261

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].

ClinVar
Risk	rs727503261(A;A) rs727503261(C;C)
Alt	rs727503261(A;A) rs727503261(C;C)
Reference	Rs727503261(T;T)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy not specified
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy not specified
Reversed	1
HGVS	NC_000014.8:g.23894983A>G; NC_000014.8:g.23894983A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000151279.5, RCV000158520.2, RCV000211833.1, RCV000471476.1, RCV000156209.1,