rs397516399

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar

Make rs397516399(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110914200

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs397516399
dbSNP (classic)	rs397516399
ClinGen	rs397516399
ebi	rs397516399
HLI	rs397516399
Exac	rs397516399
Gnomad	rs397516399
Varsome	rs397516399
LitVar	rs397516399
Map	rs397516399
PheGenI	rs397516399
Biobank	rs397516399
1000 genomes	rs397516399
hgdp	rs397516399
ensembl	rs397516399
geneview	rs397516399
scholar	rs397516399
google	rs397516399
pharmgkb	rs397516399
gwascentral	rs397516399
openSNP	rs397516399
23andMe	rs397516399
SNPshot	rs397516399
SNPdbe	rs397516399
MSV3d	rs397516399
GWAS Ctlg	rs397516399

Max Magnitude

6

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	rs397516399(C;C)
Alt	rs397516399(C;C)
Reference	Rs397516399(G;G)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not specified
Variation	info
Gene	MYL2
CLNDBN	Primary familial hypertrophic cardiomyopathy not specified
Reversed	1
HGVS	NC_000012.11:g.111352004C>G
CLNSRC	ClinVar
CLNACC	RCV000036387.2, RCV000484012.1,