rs199474703

Orientation

minus

Stabilized

minus

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

Make rs199474703(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46860702

Gene

MYL3

is a	snp
is	mentioned by
dbSNP	rs199474703
dbSNP (classic)	rs199474703
ClinGen	rs199474703
ebi	rs199474703
HLI	rs199474703
Exac	rs199474703
Gnomad	rs199474703
Varsome	rs199474703
LitVar	rs199474703
Map	rs199474703
PheGenI	rs199474703
Biobank	rs199474703
1000 genomes	rs199474703
hgdp	rs199474703
ensembl	rs199474703
geneview	rs199474703
scholar	rs199474703
google	rs199474703
pharmgkb	rs199474703
gwascentral	rs199474703
openSNP	rs199474703
23andMe	rs199474703
SNPshot	rs199474703
SNPdbe	rs199474703
MSV3d	rs199474703
GWAS Ctlg	rs199474703

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	rs199474703(A;A)
Alt	rs199474703(A;A)
Reference	Rs199474703(G;G)
Significance	Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 8
Variation	info
Gene	MYL3
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 8
Reversed	1
HGVS	NC_000003.11:g.46902192C>T
CLNSRC	Leiden Muscular Dystrophy pages (MYL3)
CLNACC	RCV000024468.2, RCV000036020.2, RCV000491596.1,

[PMID 18409188] A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.