rs104894363

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104894363(A;A)

Make rs104894363(A;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

110919160

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs104894363
dbSNP (classic)	rs104894363
ClinGen	rs104894363
ebi	rs104894363
HLI	rs104894363
Exac	rs104894363
Gnomad	rs104894363
Varsome	rs104894363
LitVar	rs104894363
Map	rs104894363
PheGenI	rs104894363
Biobank	rs104894363
1000 genomes	rs104894363
hgdp	rs104894363
ensembl	rs104894363
geneview	rs104894363
scholar	rs104894363
google	rs104894363
pharmgkb	rs104894363
gwascentral	rs104894363
openSNP	rs104894363
23andMe	rs104894363
SNPshot	rs104894363
SNPdbe	rs104894363
MSV3d	rs104894363
GWAS Ctlg	rs104894363

GMAF

0.0

Max Magnitude

0

OMIM	160781
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894363(A;A)
Alt	rs104894363(A;A)
Reference	Rs104894363(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 10 not specified Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYL2
CLNDBN	Familial hypertrophic cardiomyopathy 10 not specified Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.111356964C>T
CLNSRC	Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015108.28, RCV000036401.3, RCV000148714.2,

[PMID 8673105] Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

[PMID 11748309 ] Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.

[PMID 15483641] One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.