rs397516161

Orientation

minus

Stabilized

minus

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

Make rs397516161(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23424148

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs397516161
dbSNP (classic)	rs397516161
ClinGen	rs397516161
ebi	rs397516161
HLI	rs397516161
Exac	rs397516161
Gnomad	rs397516161
Varsome	rs397516161
LitVar	rs397516161
Map	rs397516161
PheGenI	rs397516161
Biobank	rs397516161
1000 genomes	rs397516161
hgdp	rs397516161
ensembl	rs397516161
geneview	rs397516161
scholar	rs397516161
google	rs397516161
pharmgkb	rs397516161
gwascentral	rs397516161
openSNP	rs397516161
23andMe	rs397516161
SNPshot	rs397516161
SNPdbe	rs397516161
MSV3d	rs397516161
GWAS Ctlg	rs397516161

Max Magnitude

6.2

ClinVar
Risk	rs397516161(G;G) rs397516161(T;T)
Alt	rs397516161(G;G) rs397516161(T;T)
Reference	Rs397516161(A;A)
Significance	Pathogenic
Disease	not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23893357T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000035812.3, RCV000162341.2, RCV000198644.3, RCV000223927.1, RCV000242919.1, RCV000257928.2,