rs397516209

Orientation

minus

Stabilized

minus

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

Make rs397516209(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23432713

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs397516209
dbSNP (classic)	rs397516209
ClinGen	rs397516209
ebi	rs397516209
HLI	rs397516209
Exac	rs397516209
Gnomad	rs397516209
Varsome	rs397516209
LitVar	rs397516209
Map	rs397516209
PheGenI	rs397516209
Biobank	rs397516209
1000 genomes	rs397516209
hgdp	rs397516209
ensembl	rs397516209
geneview	rs397516209
scholar	rs397516209
google	rs397516209
pharmgkb	rs397516209
gwascentral	rs397516209
openSNP	rs397516209
23andMe	rs397516209
SNPshot	rs397516209
SNPdbe	rs397516209
MSV3d	rs397516209
GWAS Ctlg	rs397516209

Max Magnitude

6.2

ClinVar
Risk	rs397516209(A;A)
Alt	rs397516209(A;A)
Reference	Rs397516209(G;G)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23901922C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000157348.6, RCV000158731.3, RCV000168835.3, RCV000477095.1,