rs104893750

Orientation

minus

Stabilized

minus

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

Make rs104893750(A;A)

Make rs104893750(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46859529

Gene

MYL3

is a	snp
is	mentioned by
dbSNP	rs104893750
dbSNP (classic)	rs104893750
ClinGen	rs104893750
ebi	rs104893750
HLI	rs104893750
Exac	rs104893750
Gnomad	rs104893750
Varsome	rs104893750
LitVar	rs104893750
Map	rs104893750
PheGenI	rs104893750
Biobank	rs104893750
1000 genomes	rs104893750
hgdp	rs104893750
ensembl	rs104893750
geneview	rs104893750
scholar	rs104893750
google	rs104893750
pharmgkb	rs104893750
gwascentral	rs104893750
openSNP	rs104893750
23andMe	rs104893750
SNPshot	rs104893750
SNPdbe	rs104893750
MSV3d	rs104893750
GWAS Ctlg	rs104893750

Max Magnitude

0

OMIM	160790
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893750(A;A)
Alt	rs104893750(A;A)
Reference	Rs104893750(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 8 not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYL3
CLNDBN	Familial hypertrophic cardiomyopathy 8 not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000003.11:g.46901019C>T
CLNSRC	Leiden Muscular Dystrophy pages (MYL3) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015107.22, RCV000036022.4, RCV000199993.3, RCV000249729.1,

[PMID 12021217] Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.