rs397516172

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;GAG)	6.2	Familial Hypertrophic Cardiomyopathy
(GAG;GAG)	0	common in clinvar

Make rs397516172(-;-)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23424036

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs397516172
dbSNP (classic)	rs397516172
ClinGen	rs397516172
ebi	rs397516172
HLI	rs397516172
Exac	rs397516172
Gnomad	rs397516172
Varsome	rs397516172
LitVar	rs397516172
Map	rs397516172
PheGenI	rs397516172
Biobank	rs397516172
1000 genomes	rs397516172
hgdp	rs397516172
ensembl	rs397516172
geneview	rs397516172
scholar	rs397516172
google	rs397516172
pharmgkb	rs397516172
gwascentral	rs397516172
openSNP	rs397516172
23andMe	rs397516172
SNPshot	rs397516172
SNPdbe	rs397516172
MSV3d	rs397516172
GWAS Ctlg	rs397516172

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	rs397516172(-;-)
Alt	rs397516172(-;-)
Reference	Rs397516172(GAG;GAG)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	MYH7
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000014.8:g.23893245_23893247delCTC
CLNSRC	ClinVar
CLNACC	RCV000035827.3, RCV000158830.2,