rs397516247

Orientation

minus

Stabilized

minus

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

Make rs397516247(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23415174

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs397516247
dbSNP (classic)	rs397516247
ClinGen	rs397516247
ebi	rs397516247
HLI	rs397516247
Exac	rs397516247
Gnomad	rs397516247
Varsome	rs397516247
LitVar	rs397516247
Map	rs397516247
PheGenI	rs397516247
Biobank	rs397516247
1000 genomes	rs397516247
hgdp	rs397516247
ensembl	rs397516247
geneview	rs397516247
scholar	rs397516247
google	rs397516247
pharmgkb	rs397516247
gwascentral	rs397516247
openSNP	rs397516247
23andMe	rs397516247
SNPshot	rs397516247
SNPdbe	rs397516247
MSV3d	rs397516247
GWAS Ctlg	rs397516247

Max Magnitude

6.2

ClinVar
Risk	rs397516247(A;A) rs397516247(G;G)
Alt	rs397516247(A;A) rs397516247(G;G)
Reference	Rs397516247(C;C)
Significance	Probable-Pathogenic
Disease	not specified not provided Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	not specified not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23884383G>C; NC_000014.8:g.23884383G>T
CLNSRC	ClinVar
CLNACC	RCV000035962.3, RCV000158697.1, RCV000471537.1, RCV000035961.3, RCV000488979.1,