rs587782962

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs587782962(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23422267

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs587782962
dbSNP (classic)	rs587782962
ClinGen	rs587782962
ebi	rs587782962
HLI	rs587782962
Exac	rs587782962
Gnomad	rs587782962
Varsome	rs587782962
LitVar	rs587782962
Map	rs587782962
PheGenI	rs587782962
Biobank	rs587782962
1000 genomes	rs587782962
hgdp	rs587782962
ensembl	rs587782962
geneview	rs587782962
scholar	rs587782962
google	rs587782962
pharmgkb	rs587782962
gwascentral	rs587782962
openSNP	rs587782962
23andMe	rs587782962
SNPshot	rs587782962
SNPdbe	rs587782962
MSV3d	rs587782962
GWAS Ctlg	rs587782962

Max Magnitude

6.2

aka c.3158G>A (p.Arg1053Gln or R1053Q)

This mutation is reported to be one of the four most common HCM-associated mutations in Finland.

ClinVar
Risk	rs587782962(A;A)
Alt	rs587782962(A;A)
Reference	Rs587782962(G;G)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided not specified
Variation	info
Gene	MYH7
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided not specified
Reversed	1
HGVS	NC_000014.8:g.23891476C>T
CLNSRC
CLNACC	RCV000143923.4, RCV000158590.2, RCV000487443.1,