rs397516269

Orientation

minus

Stabilized

minus

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

Make rs397516269(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23431426

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs397516269
dbSNP (classic)	rs397516269
ClinGen	rs397516269
ebi	rs397516269
HLI	rs397516269
Exac	rs397516269
Gnomad	rs397516269
Varsome	rs397516269
LitVar	rs397516269
Map	rs397516269
PheGenI	rs397516269
Biobank	rs397516269
1000 genomes	rs397516269
hgdp	rs397516269
ensembl	rs397516269
geneview	rs397516269
scholar	rs397516269
google	rs397516269
pharmgkb	rs397516269
gwascentral	rs397516269
openSNP	rs397516269
23andMe	rs397516269
SNPshot	rs397516269
SNPdbe	rs397516269
MSV3d	rs397516269
GWAS Ctlg	rs397516269

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	rs397516269(C;C)
Alt	rs397516269(C;C)
Reference	Rs397516269(T;T)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Variation	info
Gene	MYH7
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Reversed	1
HGVS	NC_000014.8:g.23900635A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036004.2, RCV000158766.1, RCV000201434.1,